Bsped 2019 Abstractbook

Endocrine
Abstracts
November 2019 Volume 66
ISSN 1479-6848 (online)
47th Annual Meeting of the British

Society for Paediatric Endocrinology
and Diabetes 2019
27–29 November 2019, Cardiff, United Kingdom
published by Online version available at

bioscientifica www.endocrine-abstracts.org
Volume 66
Endocrine Abstracts November 2019
47th Annual Meeting of the British

Society for Paediatric Endocrinology
and Diabetes 2019
27–29 November 2019
Cardiff, United Kingdom
Programme Organising Committee

Justin Davies (Southampton, UK)
Justin Warner (Cardiff, UK) (Local Convenor)
Noina Abid (Belfast, UK)
Tim Barrett (Birmingham, UK)
Renuka Dias (Birmingham, UK)
Anitha Kumaran (Southampton, UK)
Lee Martin (London, UK)
The abstracts were marked by the Abstract Marking Panel below:

Noina Abid (Belfast, UK) Martha Ford-Adams (London, UK) Rathi Prasad (London, UK)
Assunta Albanese (London, UK) Dinesh Giri (Bristol, UK) Tabitha Randell (Nottingham, UK)
Ved Bhushan Arya (London, UK) John Gregory (Cardiff, UK) Nilanjana Ray (London, UK)
Indi Banerjee (Manchester, UK) Vanessa Irvine (Chichester, UK) Vrinda Saraff (Birmingham, UK)
Rachel Besser (Oxford, UK) Shankar Kanumakala (Brighton, UK) Senthil Senniappan (Liverpool, UK)
Nicola Bridges (London, UK) Nils Krone (Sheffield, UK) Guftar Shaikh (Glasgow, UK)
Christine Burren (Bristol, UK) Anitha Kumaran (Southampton, UK) Helen Storr (London, UK)
Li Chan (London, UK) James Law (Nottingham, UK) Prashant Verma (Rishikesh, India)
Moira Cheung (London, UK) Sharon Lim (Chelmsford, UK) Christina Wei (London, UK)
Vipan Datta (Norwich, UK) Antoinette McAulay (Poole, UK) Ruben Willemsen (London, UK)
Justin Davies (Southampton, UK) Talat Mushtaq (Leeds, UK) Eleri Williams (Winchester, UK)
Mandy Drake (Edinburgh, UK) Pauline Musson (Southampton, UK) Neil Wright (Sheffield, UK)
Ranna El Khairi (London, UK) Kate Owen (Newcastle, UK)
Charlotte Elder (Sheffield, UK) Catherine Peters (London, UK)
47th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes 2019
BSPED would like to thank the following benefactors for their support:
Partners
Novo Nordisk
Gold
Alexion
Merck
Sandoz
Silver
Diurnal
Ferring
Ipsen
Bronze
Sanofi
Kyowa Kirin
Endocrine Abstracts (2019) Vol 66

CONTENTS
CME TRAINING DAY SESSIONS

Session 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CME1.1 – CME1.2
Session 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CME2.1 – CME2.2
Session 3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CME3.1 – CME3.2
Session 4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . CME4.1 – CME4.2
MAIN SYMPOSIA
Endocrine Track 1: Symposium 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . S1.1– S1.3
Endocrine Track 1: Symposium 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . S2.1
Diabetes Track 1: Symposium 3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . S3.1– S3.3
Diabetes Track 1: Symposium 4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . S4.1– S4.3
Nurses’ Day for Endocrine Professionals: Symposium 5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . S5.1– S5.3
DEBATE: SPEAKER BIOGRAPHIES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . D1.1 – D1.2
INQUISITOR SESSION: SPEAKER BIOGRAPHIES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IN1.1 – IN1.2
PENS PRESENTATION . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PENS1.1 – PENS1.3
DIABETES PROFESSIONALS’ DAY SESSIONS

Session 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DS1.1– DS1.3
Session 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DS2.1– DS2.2
Session 3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . DS3.1– DS3.2
NURSES’ DAY FOR ENDOCRINE PROFESSIONALS SESSIONS

Session 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ND1.1 – ND1.3
Session 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ND2.1 – ND2.2
ORAL COMMUNICATIONS
Oral Communications 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OC1.1 – OC1.2
Oral Communications 5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . OC5.1 – OC5.10
POSTER PRESENTATIONS
Adrenal, Gonadal, DSD and Reproduction, and Basic Science . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P1– P6
Bone . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P7– P15
Diabetes 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P16 – P23
Diabetes 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P24 – P31
Diabetes 3 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P32 – P39
Diabetes 4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P40 – P47

Diabetes 5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P48– P55

Diabetes 6 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P56– P62
Learning from Mistakes and Miscellaneous . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P63– P71
Pituitary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P72– P79
Thyroid . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P80– P85
AUTHOR INDEX

CME Training Day Sessions

Session 1 pituitary tumours and initial endocrine approach. It will highlight some of the
more relevant pitfalls encountered while interpreting biochemical results.
CME1.1
DOI: 10.1530/endoabs.66.CME2.1
Abstract unavailable
CME2.2
Paediatric vulval disorders
Helen Lotery
University Hospital Southampton NHS Foundation Trust, Southampton, UK
Practical points regarding the diagnosis and management of conditions affecting

CME1.2 the vulva in childhood and adolescence. This includes history-taking,
Talking to children about sex development examination, investigation, clinical diagnosis and treatment.
Julie Alderson DOI: 10.1530/endoabs.66.CME2.2
University Hospitals Bristol NHSFT, Bristol, UK
Talking to children about sex development has never been easy and for
professionals or for parents. The spectre of the Optimal Sex of Rearing theory
from the 50s and 60’s an awareness of gender fluidity with the range of possible
futures for each child we see can silence us. If we don’t let a child know about the
surprises their body has in store for them what difficulties do we store up for
them? Standard advice for talking to children is to communicate in a
Session 3
developmentally appropriate way. How can we reduce our professional anxiety CME3.1
and tread a delicate path that enables us to keep our patient with different sex Challenges in the management of the SGA child
development at the center of their care? How can we know what they want and Phil Murray
how can we help them tell us how they feel or what they think? Parents need help Department of Paediatric Endocrinology, Royal Manchester Children’s
to do their part in talking to children about Sex Development and we need their Hospital, Manchester, UK
support to keep their child engaged with care. How do we share responsibility
with parents for enabling children to understand what and why and how? This
session introduces available materials to scaffold conversations and information Approximately 650 000 children born in the UK each year, using a definition of a
exchange. We will discuss language and the way it frames patient knowledge. We birth weight less than 2 S.D. 14 950 children are born SGA. 90% of these children
will consider assumptions that might shut down children and young people and will experience catch up growth by the age of 4 years leaving around 1500
will encourage you to find some language and skills you can be happy with..for children eligible for treatment with recombinant human growth hormone. Data
now. Communicating is subject to revision and reiteration. from the BSPED audit in 2016 recorded 177 children started on GH at a mean age
of 6.2 years – all of these children will have been short at 4 years of age so we are
starting GH late in the small minority of SGA children whom we are treating!
Frequently SGA children are referred to endocrinologists as possible cases of
Silver–Russell Syndrome, the use of clinical scoring systems to identify children
with SRS will be discussed as will starting GH from the age of two years in this
group. Most endocrinologists currently treat children with GH using dose-titration
based upon serum IGF-I concentrations but in SGA children this approach
appears to be less effective compared to fixed dosing. The role of GnRH analog
therapy or aromatase inhibitors combined with GH will also be discussed. Finally
the definition and frequency of poor response to GH treatment will be discussed.
Session 2
CME2.1
Recognition and assessment of pituitary tumours: what the clinician
needs to know
Assunta Albanese
St George’s University Hospitals NHS Foundation Trust, London, UK
Craniopharyngiomas and pituitary adenomas are the most common benign

tumours occupying the pituitary fossa. Neoplastic or infiltrative processes of the CME3.2
pituitary area, such as gliomas arising from the optic chiasm and surrounding The pituitary – growth hormone deficiency and beyond
region, germ cell tumors from the pituitary stalk, and granulomatous diseases, are Evelien Gevers1,2
less common. Pituitary adenomas are classified according to size, functional 1
Queen Mary University London, William Harvey Research Institute,
status, primary cell origin, and hormone secretion (Prolactin, GH, ACTH, TSH London, UK; 2Barts Health NHS Trust – Royal London Hospital, London,
and gonadotropins) Prolactinomas are the most common pituitary adenomas in UK
adults and children, and 53% of pediatric pituitary adenomas are found to be
prolactinomas. Most pituitary tumours grow very slowly and those discovered by
chance ‘incidentalomas’ may not need any active treatment. Large tumours may The pituitary gland is the master gland controlling many other hormone secreting
produce pressure effect on surrounding tissues leading to visual defects, cranial organs.The gland lies within the sella turcica at the base of the brain to which it is
nerve impairment, headaches, rhinorrhea or symptoms of hypopituitarism due to attached by the pituitary stalk or infundibulum. Lactotrophs, somatotrophs,
destruction of the pituitary tissue. Hypopituitarism usually has an insidious thyrotrophs, corticotrophs and gonadotrophs in the anterior pituitary gland secrete
presentation with generalized malaise, tiredness, loss of appetite, weight loss or the polypeptide hormones prolactin (PRL), growth hormone (GH), thyroid
gain, decreased mental function, dizziness, poor linear growth, delayed/arrested stimulating hormone (TSH), adrenocorticotropic hormone (ACTH) and luteiniz-
puberty, primary/secondary amenorrhea and loss of libido. Polyuria and ing (LH) and follicle stimulating (FSH) hormones, respectively, and magnocel-
polydipsia can be the presenting symptoms of diabetes insipidus. Hypopituitarism lular neurosecretory neurons in the posterior gland extending from the
may present acutely following infarction within the pituitary adenomas (pituitary Paraventricular nucleus and Supraoptic nucleus in the hypothalamus, secrete
apoplexy) and require immediate medical and neurosurgical attention. Signs and Vasopressin and Oxytocin. The pituitary gland is derived from two ectodermal
symptoms of hormonal hypersecretion can lead to the diagnosis of functioning structures, the neural ectoderm, which gives rise to the posterior lobe, and the
micro or macroadenomas. The lecture will focus on the clinical presentation of surface ectoderm, which produces Rathke’s pouch, the precursor to the anterior

and intermediate lobes. Specific transcription factors are important for cell (CGM) provides blood glucose readings and trends whilst omitting the more
specification and lineage determination. Knowledge of pituitary development and traditional method of multiple daily blood testing, and they have been reported in
transcription factors helps to determine the cause of congenital pituitary hormone clinical trials to reduce hypoglycaemia, and improve blood sugar management
deficiency disorders, either isolated hormone deficiency or multiple hormone day to day. This is a life changing technology to improve their quality of life and
deficiency, either as an isolated hormone condition or in the context of a improve management of their blood sugar levels. The advantage of technology is
syndrome, for example sept-optic dysplasia, holoprosencephaly, Kalmann the availability of information about glucose levels which helps to predict hyper
syndrome, CHARGE syndrome, Coffin Siris syndrome. Pituitary hormone and hypoglycaemia and to adjust the insulin doses accordingly. NICE guidelines
secretion is mostly pulsatile and regulated by neuroendocrine factors produced NG18 recommend that children and young people with T1DM and persistent
in neuroendocrine cells in the hypothalamic nuclei and secreted in the portal problems with hypoglycaemia unawareness or repeated hyper or hypoglycaemia
circulation to act on surface receptors of anterior pituitary cells. We will discuss should be offered CGM. A Cochrane meta-analysis showed that CGM technology
the regulation of GH secretion in the hypothalamic–pituitary axis in more detail can reduce HbA1C level without increase in the risk of hypoglycaemia. Aspects
and relate it to different types of isolated GH deficiency and touch on the effects of CGM/Libre technology may impact upon its accuracy such as MARD (Mean
of GH resistance on GH secretion. The pulsatile nature of pituitary hormone Absolute Relative Difference), accuracy of glucose trend, sensitivity &
secretion is a challenge for the investigation of pituitary hormone deficiencies, specificity, measuring stability, calibration and the lag time. Barriers of usage
reason to resort to pituitary stimulation tests which however require cautious should be addressed and education is vital. This presentation will focus on the
interpretation in conjunction with other investigations and the clinical phenotype following:
of the patient in order to prevent incorrect diagnosis of pituitary hormone † Understanding use of CGM/Libre and its limitations.
deficiency. Lastly, we will touch on acquired causes of pituitary hormone † Effects of CGM on metabolic control, fear and frequency of hypoglycaemic
deficiencies, such as craniopharyngioma. episodes.
DOI: 10.1530/endoabs.66.CME3.2 † Use a systematic approach to interpretation of analyses.
Session 4
CME4.1 CME4.2
Diabetes technology update (CME lecture)
Sze May Ng
Southport and Ormskirk Hospital NHS Trust, Southport, UK Abstract unavailable
Self-monitoring of blood glucose (SMBG) is an important part of diabetes

management but only provides a snapshot view of the blood sugar at that point in
time. Technology such as Freestyle Libre and Continuous Glucose Monitoring

Main Symposia

Endocrine Track 1: Symposium 1 were obtained in a later trial which analysed subclinical hypothyroidism and
hypothyroxinemia separately; no benefit was observed, from maternal treatment
S1.1 started at ~17 weeks gestation, on children’s IQ at age 5. The results prompted
Long-term outcomes for young women with PCOS questions as to whether the children were tested too young, the mothers were
Aled Rees treated too late and/or supplementation dose was too high – following the reported
Cardiff University, Cardiff, UK bi-phasic effect of FT4 on cognition. Repeated cognitive assessments in the
CATS children at age 9.5 years confirmed the original findings, found that IQ at
ages 3 and 9 were strongly correlated and that the lack of treatment effect may be
Polycystic Ovary Syndrome (PCOS) is the commonest endocrine disorder in due to the similar proportion of IQ ! 85 in children of women with normal-GTF
young women, affecting up to 10% of the premenopausal population. In addition and SGTF. Behaviour problems were also measured in the CATS children using
to its reproductive sequelae, PCOS is now established as a metabolic disorder, 3 questionnaires. We found no association between SGTF and offspring attention
characterised by defects in insulin secretion and action. These disturbances, along deficit hyperactivity disorder (ADHD), autism spectrum disorder or behaviour
with comorbidities such as obesity and dyslipidaemia, may predispose to an questionnaire scores. However, children of ‘over-treated’ mothers (FT4>97.5th
increased risk of cardiometabolic disease in later life. Our studies confirm a higher percentile) displayed significantly more ADHD symptoms and behavioural
prevalence of surrogate risk measures for cardiovascular disease, including difficulties than normal-GTF. Thus thyroxine supplementation during pregnancy
antioxidant capacity, complement concentration and sympathoexcitation, in requires careful monitoring to avoid over-treatment.
women with PCOS compared to matched controls. Nevertheless, differences
DOI: 10.1530/endoabs.66.S1.3
between groups in arterial stiffness, myocardial function and carotid intima media
thickness are not apparent after adjustment for obesity. Large-scale epidemio-
logical data confirm an increased long-term risk of type 2 diabetes and fatty liver
disease but not of all-cause mortality, cancer and cardiovascular events, albeit that
studies were conducted in a young population (with a low event-rate) hence
longer-term data are required. These risks extend into pregnancy and include an
increased risk of gestational diabetes, pre-eclampsia, prematurity and mis-
carriage. However, age-standardised fertility ratios are not different compared to Endocrine Track 1: Symposium 2
unaffected controls, providing some reassurance to patients that fertility may be S2.1
restored with appropriate treatment. More recently, data show an increased
incidence of depression, anxiety, bipolar disorder and eating disorder in women
with PCOS, accompanied by alterations in white matter microstructure.
Furthermore, linkage analysis also found an increased risk of a recorded
diagnosis of autism spectrum disorder and attention-deficit hyperactivity disorder Abstract unavailable
in children born to mothers with PCOS, raising the possibility that increased
exposure to androgens in utero might affect neonatal brain development.
Treatments to reduce these long-term risks are thus needed urgently. In this
regard, data from randomised, placebo-controlled trials of metformin on vascular
function show promise, whereas lifestyle trials comparing different exercise
modalities are ongoing.
DOI: 10.1530/endoabs.66.S1.1
Diabetes Track 1: Symposium 3

S3.1
S1.2
S3.2
Role of the enviroment in the pathogenesis of type 1 diabetes
S1.3 F Susan Wong
Maternal thyroid function in pregnancy and childhood outcomes Cardiff University, Cardiff, UK
Marian Ludgate
School of Medicine, Cardiff University, Cardiff, UK Both genetic and environmental factors determine whether individuals who have
a predisposition to the development of type 1 diabetes actually develop the
The foetus relies on placental transfer of maternal thyroid hormones, until the disease. Although we now know a considerable amount about the genetics
thyroid matures fully, at ~36 weeks gestation. Studies in animals, and the through genome wide scans, and diabetes risk scores have been developed, the
cognitive impairment experienced by children born in areas of iodine deficiency actual environmental triggers or perpetuating factors are not clearly defined.
or to mothers with hypothyroidism, highlight the importance of thyroid hormone There has been considerable interest in recent years in investigation of these
in brain development. The impact of less severe thyroid dysfunction remained possible environmental factors in birth cohort studies. These studies have
controversial until two large-scale trials investigated the effect on child IQ of included documenting environmental contributors in individuals who are
thyroxine supplementation in mothers with suboptimal gestational thyroid genetically at high risk. The studies have focused on diet, various infections,
function (SGTF). In the controlled antenatal thyroid screening (CATS) study, the gut microbiome and other possible factors. Recent advances will be discussed
women whose FT4 was !2.5th percentile and/or TSH >97.5th percentile were in this presentation.
treated with 150 mg thyroxine from ~13 weeks gestation. No differences were DOI: 10.1530/endoabs.66.S3.2
found in child IQ aged 3 from treated/untreated mothers. Similar results

S3.3 S4.3
Newer treatments for type 2 diabetes in children Improving diabetes care: lessons from registries
Timothy Barrett John Gregory
It is over 17 years since the randomised controlled trial of metformin showed Cardiff University, Cardiff, UK
efficacy in childhood type 2 diabetes. Since that time, despite much investment in
paediatric investigation plans, very few interventional clinical trials have The Brecon Group (Welsh Paediatric Diabetes Interest Group) was established in
reported. This presentation reviews the evidence for childhood type 2 diabetes 1995 given the need to advise Welsh Government regarding commissioning of
being different to adult type 2 diabetes. Childhood type 2 diabetes is a more paediatric diabetes services. A diagnostic register was created using a minimal
aggressive disease; children have lower insulin sensitivity than adults; and data-set to identify the numbers of young people aged !15 years with diabetes in
complications occur earlier in the disease process. This presentation then reviews Wales and to establish national audit. This allowed us to show the benefits of
the results from the TODAY study, and the newly published results from the appointment of paediatric diabetes specialist nurses but also the lack of impact of
randomised controlled trial of GLP1-receptor agonist. While the natural history of a poster campaign to promote awareness of diabetes, facilitate an earlier diagnosis
the disease is that almost 50% of children will progress to HbA1c more than 8.5% and reduce the risk of presentation in ketoacidosis. We have now integrated an
on metformin, rosiglitazone, or lifestyle treatment, the recent study of Liraglutide anonymised version of this data-set within the Secure Anonymised Information
(GLP-1 receptor agonist) in combination with metformin shows an improvement Linkage Databank (SAIL) allowing linkage of anonymised individual’s data
of over 1% in HbA1c compared with metformin alone. The presentation then across data-sets. Analyses of linked data-sets show a 5 to 6-fold increased risk of
reviews ongoing randomised controlled trials in childhood type 2 and the all cause hospital admissions for young people with diabetes, disproportionately
prospects for new classes of treatments becoming available. so in the very young, those from more deprived backgrounds and those cared for
DOI: 10.1530/endoabs.66.S3.3 in smaller units around Wales. The National Children and Young People’s
Diabetes Network in Wales is therefore initiating a national ‘out of hours’ on-call
system, to provide young people and their families with clinical advice, regardless
of where their diabetes is treated. Further analyses have shown a near 3-fold
increased mortality in our young cohort. We have also evaluated the nature of
increased contact with primary care that children developing diabetes experience
in the year before diagnosis. This latter work provides the basis for developing an
early warning tool to assist GPs in the recognition of a child developing diabetes,
promoting an earlier diagnosis and reducing the risk of ketoacidosis. This registry
Diabetes Track 1: Symposium 4 has therefore provided a powerful tool through pseudo-anonymised linkage, to
investigate a range of further outcomes (e.g. pregnancy, alcohol-related
S4.1 admissions, diabetes-specific complications and educational achievement) to
inform the management of diabetes in childhood and young adult life.
DOI: 10.1530/endoabs.66.S4.3
Nurses’ Day for Endocrine Professionals: Symposium 5

S5.1
S4.2
QI in action – the Sheffield Children’s Hospital experience
Carrie MacKenzie & Sheffield Children’s Diabetes Team Abstract unavailable
Sheffield Children’s Hospital NHS FT, Sheffield, UK
The Sheffield Children’s Diabetes Team [SCDT] look after approximately 240
patients with Type 1 Diabetes aged 0–17 years. We have approximately 35 newly
diagnosed patients each year and the level of social deprivation amongst our clinic
population is high. Historically the team has always performed well in terms of
measured outcomes and in the 2014–2015 National Paediatric Diabetes Audit
[NPDA] data we ranked amongst the top five units in the country with a mean
clinic HBA1c of 62.8 mmol/mol and 38.4% of patients having an HBA1c of
!58 mmol/mol. In subsequent years our ranking fell with an increase in mean
HBA1c [64.3 mmol/mol in 2016–2017] and only 28.6% of patients achieving an
HBA1c ! 58 mmol/mol. The invitation to participate in the Royal College of
Paediatrics and Child Health [RCPCH] Diabetes Quality Improvement [QI] pilot
project afforded us the opportunity to address our relatively poor outcomes using S5.2
QI methodology. We recognised a particular problem in our clinic population
Congenital TSH deficiency
with control in the first year after diagnosis with Type 1 Diabetes and identified
Nadia Schoenmakers
the need for change to enable and empower our patients to achieve improved
outcomes by providing patients and families with individualised, bespoke University of Cambridge Institute of Metabolic Science, Cambridge, UK
education. Our QI aim is to enable and support service users to achieve an HBA1c
of 48 mmol/mol at 3 and 12 months post diagnosis. Our interventions so far Congenital thyroid stimulating hormone (TSH) deficiency occurs due to
include: carbohydrate counting from diagnosis whilst an in-patient; micro- hypothalamic or pituitary pathology, with consequent impaired stimulation of
teaching in the clinic waiting area; revised team aims and Diasend downloading at the thyroid gland by TSH resulting in central congenital hypothyroidism (CCH).
home from diagnosis. The ongoing collection and analysis of metrics has been Although assumed to be rare, CCH may be more common than previously
fundamental to the modification of our interventions and early data has been appreciated with an incidence of up to 1:21 000 reported in the Netherlands. TSH
encouraging. Our data [including average blood glucose and HBA1c results] will deficiency is most frequently associated with additional pituitary hormone deficits
be presented. but may also occur in isolation with an estimated incidence of around 1:65 000,
DOI: 10.1530/endoabs.66.S4.2 often as a result of defects in genes controlling the TSH biosynthetic pathway.
Genetic ascertainment in isolated TSH deficiency has advanced over the last three

decades, with causative monogenic mutations reported in five different genes: S5.3
IGSF1, TRHR, TSHB, TBL1X and IRS4. CCH is characterized biochemically by
failure of appropriate TSH elevation despite subnormal circulating thyroid
hormone levels. Therefore, the primary, TSH-based congenital hypothyroidism
screening programmes which operate in the UK will not detect CCH since TSH is Abstract unavailable
not raised. Severe central hypothyroidism may therefore evade diagnosis until the
patient presents with clinical sequelae. Adequate circulating thyroid hormone
levels are essential for normal childhood growth and neurodevelopment, therefore
delayed diagnosis and treatment of CCH may result in profound neurodevelop-
mental delay. This presentation will focus on the diagnostic pitfalls of CCH, the
genetic causes of isolated TSH deficiency, and their associated clinical,
biochemical and molecular features.
DOI: 10.1530/endoabs.66.S5.2

Debate: Speaker Biographies

D1.1 D1.2
1,2
Rachel Besser Anuja Natarajan1,2,3
1 1
Consultant in Paediatric Endocrinology, and Research Lead in Paediatric Consultant Paed Endocrinologist; 2CYPD Network Chair, Yorkshire and
Diabetes, Oxford Children’s Hospital, The John Radcliffe; 2Honorary Senior Humber; 3Clinical Director Paediatrics, Doncaster and Bassetlaw Teaching
Clinical Lecturer, University of Oxford Hospitals
Dr Rachel Besser BSc MBBS (Hons) MRCPCH PhD, is a consultant in paediatric Anuja Natarajan completed her training in Paediatric endocrinology in 2004 and
endocrinology at Oxford Children’s Hospital, and Honorary senior clinical joined the Doncaster & Bassetlaw Hospitals NHS Foundation Trust (now a
lecturer at the University of Oxford, working with both the NIHR Oxford teaching hospital since 2018) in 2014 as a Consultant paediatrician with CCST in
Biomedical Research Centre and the Wellcome Centre for Human Genetics. She Endocrinology . She took up the post of lead for Paediatric diabetes and Paediatric
came to Oxford in 2016 and was Clinical Lead between 2016–2018, and is now Research in 2005 and since then has been in post for these two areas. Within the
Research and Audit lead for the department. Rachel splits her job between clinical scope of her role as research lead Anuja has been successful in getting funding for
diabetes and diabetes research. She runs clinics for children with type 1 diabetes appointment of a paediatric research nurse since 2010 as a result of active
aged under 5 years, and Transition (17–19y) in Oxford, and sees paediatric participation in diabetes and endocrine related research studies nationally and
patients of all ages in between. Rachel has published 3 books on paediatric regionally. This was the first paediatric specific research post within her trust. She
diabetes; Diabetes Through the Looking Glass, published in 2009, and still in has led the paediatric research team successfully over the last 14 years and
print, is endorsed by JDRF and Diabetes UK, and won the Best New Health Care expanded the team to include general paediatric colleagues and diabetes and
book for the General Reader by the Society of Authors. In it, Rachel shares endocrine nurses. In 2015, 6 months after appointment to the consultant post she
narratives from over 100 children and adults with type 1 diabetes, and their was able to set up a tertiary endocrine service at DRI, including getting a nurse
parents, using their testimonials to explain to the reader what it feels like to live trained formally in Auxology and endocrinology to cover the specialist clinics as
with type 1 diabetes from the child’s perspective, navigating life’s journey, well do all the dynamic testing . The service has since then grown to employ a full
including the healthcare system. As such, Rachel is an expert in understanding time endocrine nurse specialist, 2 HCA for clinics and increased number of clinics
diabetes from both the patient and health care professional’s perspective. Rachel covering Doncaster, Mexborough and Bassetlaw. Anuja was appointed Chair of
oversees 10 collaborative and original paediatric research studies in Oxford. the Diabetes Yorkshire and Humber Network in March 2016 and her 4 year tenure
DOI: 10.1530/endoabs.66.D1.1 (3 years with 1 year extension) will end in March 2020. Her main achievements
have included the successful implementation of detailed bi-annual analysis of
HbA1c outcomes from all teams across the region, initially met with some
reluctance; the benefit of closely analysing outcomes at programme board level
has been accepted and now embraced by the network members. Anuja was
appointed as the Assistant Care Group Director (ACGD) for Paediatrics in March
2017 and subsequently to Clinical Director Paediatrics from March 2018.
DOI: 10.1530/endoabs.66.D1.2

Inquisitor Session: Speaker

Biographies

IN1.1 IN1.2
1,2
Tim Cheetham Mehul Dattani1,2
1
Newcastle University and Department of Paediatric Endocrinology; 2Royal 1
Professor of Paediatric Endocrinology, Genetics and Genomic Medicine
Victoria Infirmary, Newcastle upon Tyne Research and Teaching Department, UCL Great Ormond Street Institute of
Child Health; 2Honorary Consultant and Co-Speciality Lead at Great
Ormond Street Hospital for Children
Tim Cheetham is a University Reader and Honorary Consultant Paediatrician
based in Newcastle-upon-Tyne, England, UK. He was appointed in 1996
following paediatric / endocrine / diabetes training in Oxford and Cambridge – Mehul Dattani is Professor of Paediatric Endocrinology based at the University
and following 6 months as a neonatal consultant at Addenbrooke’s. He has a College London (UCL) Great Ormond Street Institute of Child Health, and
broad range of interests and has a key role in a number of clinical trials and studies Specialty Lead in Endocrinology at Great Ormond Street Hospital for Children
in the field of clinical endocrinology including Graves’ disease, longer term (GOSH). He has an active clinical practice in paediatric and adolescent
outcomes following preterm delivery and Duchenne Muscular Dystrophy. Endocrinology at GOSH and University College London Hospitals (UCLH).
DOI: 10.1530/endoabs.66.IN1.1 He completed a 3-year term as Chair of the British Society for Paediatric
Endocrinology and Diabetes, followed by a 7 year term as Chair of the
Programme Organizing Committee and member of the Council of the European
Society for Paediatric Endocrinology (ESPE). He is the currently the President of
the European Society for Paediatric Endocrinology for 2020. He has also been
appointed co-Chair of the Pituitary Main Thematic Group of the ENDO-ERN
initiative. Professor Dattani has established a laboratory group investigating the
molecular basis of hypothalamo-pituitary disease at UCL. He has identified novel
genes implicated in hypothalamo-pituitary development in patients with
congenital hypopituitarism, and more recently has worked on understanding the
molecular basis of a paediatric brain tumour called adamantinomatous
craniopharyngioma. He has more than 250 publications including original
articles and scholarly reviews in a number of high impact journals, as well as book
chapters. He sits on numerous advisory boards and editorial boards of journals.
He has previously received the ESPE Henning Andersen and RCPCH Donald
Paterson awards for his scientific work. He has co-authored 3 textbooks and is
currently working on a further 3 books.
DOI: 10.1530/endoabs.66.IN1.2

PENS Presentation

PENS1.1 PENS1.3
The evolving role of the children’s endocrine nurse specialist Patients living with CAH
Jenny Walker Sue Elford
Leeds Children’s Hospital, Leeds, UK CAH Support Group, Bedford, UK
This is a brief reflection on how the role of the children’s endocrine nurse Since my son was born (32 years ago) the monitoring and treatment for patients
specialist has evolved over the past 24 years and discussion around what the next with CAH has improved considerable, with multidisciplinary teams providing
24 years may look like. What have we achieved; what is there still to do and what excellent care from birth. It is still pretty scary for parents when they are given the
are the major challenges for the future? When days are filled with phone calls, diagnosis but they are able to access information on the condition, not just from
clinics, paper/ computer work, supporting colleagues and caring for patients- we their hospital team but also via support groups and the internet. Social media has
often forget what we have actually achieved and how much our roles have enabled them to chat to other families online which can help them feel less
developed over the last 20 years. This will be an opportunity to celebrate what we isolated (although on occasion can cause more worries too, as not all information
have already achieved and to consider future aspirations and how these may be online is helpful or accurate). On the whole though, families are better informed
reached. and children born with CAH today have every chance of progressing ‘normally’
DOI: 10.1530/endoabs.66.PENS1.1 and due to medication being more finely tuned nowadays and new preparations
available, they have less side effects to contend with. Injection kits are now also
provided routinely for patients with CAH and training is given for parents/family
members too, usually by helpful endocrine nurses at regular intervals. Although
probably seldom used, an injection kit is also usually provided for schools too,
When this became standard some years ago, endocrine nurses did try and visit
schools and give injection training to teachers too but in recent years this has
PENS1.2 become unsustainable and is not only considered unsafe practice (as teachers
leave, children change schools etc) but is also not good use of NHS resources.
This has caused some upset amongst families who worry this puts their child at
risk in school. However, a good care plan, advising schools of what to look out for
Abstract unavailable and with the child listed as ‘at risk of adrenal crisis’ with their local ambulance
service, the child should receive prompt expert attention, which should be
perfectly sufficient to keep a child with CAH safe.
DOI: 10.1530/endoabs.66.PENS1.3

Diabetes Professionals’ Day Sessions

Session 1 † To increase understanding of the presentation of eating disorders in Diabetes.

† To encourage cultural changes and body positive language.
DS1.1 Hopes for the future
Nutrition, food science and cooking – what role in management of Ongoing media and societal views around weight, shape and health are likely to
diabetes in children? continue to fuel a societal dissatisfaction with body and self. The misuse of insulin
Francesca Annan for weight loss is a topic which needs to be discussed, understood and young
University College London Hospitals NHS Foundation Trust, London, UK people supported through a journey.
† Prevention embedded into structured education.
† Seamless transition to adult services.
This presentation will review the role of nutrition in diabetes management, the † Joined up working between medical and mental health services.
evolution of advice from RD Lawrence’s Red and Black lines through to † Ongoing service improvement projects, language training and body positivity
the evidence from the current era of the need to consider meal compensation as across all disciplines.
the basis for insulin dosing with food, the importance of quality of good choices References
on outcomes, the impact of technology on our understanding of post prandial 1. Diabetics With Eating Disorders [internet]. Available from http://dwed.org.
glucose responses and insulin delivery strategies. uk/about-us-faq
DOI: 10.1530/endoabs.66.DS1.1 2. Inchley J, Currie D. Growing up unequal: gender and socioeconomic
differences in young people’s health and well-being. Health Behaviour in
School-aged Children (HBSC) study: international report from the.
2013;2014:2.
3. Colton P, Olmsted M, Daneman D, Rydall A, Rodin G. Disturbed eating
behavior and eating disorders in preteen and early teenage girls with type 1
diabetes: a case-controlled study. Diabetes Care. 2004 Jul 1;27(7):1654–9.
4. Cho YH, Craig ME, Hing S, Gallego PH, Poon M, Chan A, Donaghue KC.
DS1.2 Microvascular complications assessment in adolescents with 2-to 5-yr
Using Carbs & Cals in everyday everyday practice duration of type 1 diabetes from 1990 to 2006. Pediatric diabetes. 2011
Chris Cheyette1,2 Dec;12(8):682–9.
1
Chello Publishing Limited, London, UK; 2Kings College Hospital, London, 5. Anderson NK, Nicolay OF. Eating disorders in children and adolescents. In
UK Seminars in Orthodontics 2016 Sep 1 (Vol. 22, No. 3, pp. 234–237). WB
Saunders.
6. Young V, Eiser C, Johnson B, Brierley S, Epton T, Elliott J, Heller S. Eating
One of the corner stones of nutritional advice children and young people with problems in adolescents with Type 1 diabetes: a systematic review with
diabetes is an awareness of how the food they choose can affect their blood meta?analysis. Diabetic medicine. 2013 Feb;30(2):189–98.
glucose. Knowing; which foods contain carbohydrate, how to find this 7. Pinhas-Hamiel O, Hamiel U, Levy-Shraga Y. Eating disorders in adolescents
information out, how to estimate the amount of carbs and why not all carbs are with type 1 diabetes: challenges in diagnosis and treatment. World journal of
the same, can help those living with diabetes, their families and careers make diabetes. 2015 Apr 15;6(3):517.
informed choices. Chris Cheyette is senior diabetes specialist dietitian at Kings 8. National Institute for Health and Care Excellence (NICE), 2015. Diabetes
College Hospital. He is also co-founder and author of the best selling Carbs & (type 1 and type 2) in children and young people: diagnosis and management.
Cals series of books and app which have won numerous awards for their simple London. NICE.
yet innovative pictorial approach to helping people understand the nutrients in 9. National Institute for Health and Social Care Excellence (NICE), 2017. Eating
their food choices. Carbs & Cals is widely recommended throughout the NHS for Disorders: Recognition and Treatment. London. NICE.
people with type 1 and 2 diabetes and has changed the way healthcare DOI: 10.1530/endoabs.66.DS1.3
professionals teach carb counting. Chris will discuss how the resources were
developed, and explore ways to use them in day-to-day practice.
DOI: 10.1530/endoabs.66.DS1.2
Session 2
DS2.1
DS1.3
Practical diabetes – disordered eating and type 1 diabetes Abstract unavailable
Aisling Pigott & Rhian Murphy
Cardiff and Vale NHS, Cardiff, UK
Introduction
The misuse or deliberate restriction of insulin for the purpose of weight loss is
commonly referred to in the media and on social media as ‘Diabulimia’1, but this
is not a medical definition. The relationship that young people with Type 1
Diabetes have with their weight, food and insulin is a commonly discussed,
frequently studied but poorly understood issue. Mental health difficulties,
especially eating disorders are common amongst adolescents2, and particularly
in those with chronic health conditions3. Dietary restriction alongside poor DS2.2
glycaemic control during this period of rapid growth and metabolic changes have Avoiding hypoglycaemia during sporting activity
protracted consequences on long term health outcomes4,5. Eating disorders (7% Tarini Chetty1,2
vs 2.8%) and disordered eating patterns (39.3 vs 32.5%) are not unique to persons 1
Royal Hospital for Sick Children, Edinburgh, UK; 2Perth Children’s
with diabetes (PWD)6. However, insulin restriction provides young people with Hospital, Perth, Australia
Diabetes a unique and dangerous purging tool. The consequences of eating
disorders in diabetes carry the high mortality and morbidity risks of eating
disorders alongside a 4-fold increased risk of diabetes related complications and 3 Regular physical activity during childhood is important for optimal physical and
fold risk of death7. Understanding and supporting PWD those who have difficult psychological development. For individuals living with type 1 diabetes, physical
relationships with body image, food and insulin is a challenge for many health activity offers many health benefits including improved glycaemic control,
professionals. Joint working remains the cornerstone of clinical guidance8,9, cardiovascular function and psychological well-being. However, maintaining
however the practice of this is yet to be formally established in many areas. stable blood glucose levels around exercise remains a major challenge. In
Objectives particular, exercise is associated with an increased risk of hypoglycaemia. The
† To understand incidence of disordered eating in Diabetes. resulting fear of hypoglycaemia is often perceived by people living with type 1
† To explore mortality and morbidity data. diabetes as the most significant barrier to adopting a physically active lifestyle.

This presentation will provide an overview of the exercise physiology DS3.2

underpinning glycaemic excursions associated with exercise and will discuss Type 2 diabetes, an increasing problem: lessons from national surveys
evidence based strategies to reduce the risk of hypoglycaemia during and after T Candler1,2 & JPH Shield1
activity, highlighting recent developments in this field. The overall aim of this talk 1
NIHR Biomedical Research Centre: Nutrition, Diet and Lifestyle Theme,
is to provide health professionals with practical strategies to overcome common School of Oral and Dental Sciences, Bristol, UK; 2MRC The Gambia at
exercise related problems encountered in the clinic. London School of Hygiene and Tropical Medicine, London, UK
Background
Type 2 Diabetes (T2DM), though a rare condition in children, is increasing in the
paediatric population. The British Paediatric Surveillance Unit (BPSU) reporting
framework is used to understand the clinical course and epidemiology of rare
diseases in children.
Aim
Session 3 To estimate the UK incidence of Type 2 diabetes (T2DM) in children aged !17
DS3.1 years and to compare with data collected a decade before. To characterize clinical
Getting the best out of social media in paediatric diabetes features at diagnosis and assess the clinical progress 1-year on.
Sze May Ng Methods
Clinician reported clinical data reported at presentation and 1-year follow-up of a
Southport and Ormskirk Hospitals NHS Trust, Southport, UK
cohort of children (!17 years) diagnosed with T2DM reported through the BPSU
(April 2015–April 2016).
Ongoing patient engagement and education are vital in establishing successful Results
self-management, long-term glycaemic management and a complication-free The UK incidence of T2DM in children was 0.72/100 000 (95% CI 0.58–0.88)
future for people with diabetes. Today’s healthcare requires engaging the current with children from ethnic minorities over-represented. Children of Asian
generations where approximately 71% of adults go online everyday, and an ethnicity had a significantly lower BMI SDS compared with white children
additional 11% go online three to five times per week. One in three young people (P!0.001). There was a trend in increased incidence between 2005–2015, with a
currently use social media in their daily lives. Social media has brought about a rate ratio of 1.35 (95% CI 0.99–1.84, P=0.062), however there was statistical
major change in societal communication and it offers huge potential as a versatile evidence of increased incidence among girls (P=0.03) and children of South-
platform to deliver health interventions, recruitment to trials, collection of data Asian ethnicity (P=0.01). At 1-year follow up, HbA1c !48 mmol/mol was
and improving patient engagement within health care. However, key issues achieved in 38.8%. logHbA1c was predicted by clinician reported compliance
regarding ethical concerns -such as privacy, anonymity, informed consent and and attendance concerns (b = 0.12, P = !0.0001) and change in body mass index
confidentiality remain an obstacle for healthcare professionals to engage in social (BMI) SDS at 1-year (b = 0.13, P=0.007). Metformin was the most frequently
media as a platform. Doctors now face a generation with social media and internet used treatment at baseline (77%) and follow-up (87%), though newer treatments
technology readily available, and online health care will soon become part of our like GLP-1 agonists were being used in children. Microalbuminuria prevalence
clinical practice. It is therefore vital for health care professionals to be aware of at 1-year was 16.4% compared to 4.2% at baseline and was associated with a
the ethical guidelines on the use of social media and to work within the ethical higher HbA1c compared to those without microalbuminuria (60 vs 49 mmol/mol,
principles within their regulatory bodies. The optimal and ethical use of P Z 0.03).
innovative technologies and social media within a paediatric practice is shown to Conclusions
improve patient engagement and deliver effective education within the diabetes T2DM is an increasing especially among girls and those of south Asian ethnicity.
services. Compliance to medication and BMI-reduction are key to positive outcomes.

Nurses’ Day for Endocrine

Professionals Sessions

Session 1 Session 2
ND1.1 ND2.1
Assessing and monitoring growth in children with bone disorders
Moira Cheung
Evelina London Children’s Hospital, London, UK
Longitudinal growth in children is determined by endochondrial ossification at

the growth plates of long bones and spinal growth. Whilst the assessment,
monitoring and treatment of conditions which are responsive to growth hormone
is well documented, conditions where children have an underlying bone disorder
are more challenging. This paper will outline the important, common, primary
bone conditions that impact growth, the assessment and effects that disordered
growth has on the functional impact of the child. It will also summarise the latest
ND1.2 drug therapies that are available and are currently in clinical trials, which impact
the management of growth children with bone disorders.
DOI: 10.1530/endoabs.66.ND2.1
ND1.3 ND2.2
Abstract unavailable Abstract unavailable

Oral Communications

Oral Communications 1 (88.8%) most frequently given in three daily doses (75%) and of prednisolone in
adults (50.1%) usually given as one daily dose (67%). Glucocorticoid doses
OC1.1 expressed as hydrocortisone-equivalent in mg/m2 per day (median with
Exploring trends in the glucocorticoid and mineralocorticoid treatment interquartile range) were 13.5 (10.3–17.8) in the 0–1 years, 11.9 (9.9–14.4) in
of congenital adrenal hyperplasia by analysing data from the I-CAH 1–8 years, 13.0 (10.7–15.5) in 8–12 years, 14.0 (11.6–17.5) in 12–18 years, 13.5
registry (11.1–19.2) in 18–30 years and 12.9 (8.9–16.8) in the over 30 year-old patient
Irina-Alexandra Bacila1, Oliver Blankenstein2, Uta Neumann2, subgroup. Glucocorticoid doses were significantly reduced after 2010 in patients
Heidi L Claahsen-van der Grinten3, Ruth Krone4, Tania SS Bachega5, 0–1 years (P!0.001) and 1–8 years (P!0.001), increased in patients 18–30 years
Mirela C Miranda5, Berenice Mendonca5, Niels H Birkebaek6, (PZ0.014) and statistically similar in the other age subgroups. Mineralocorticoid
Martine Cools7, Tatjana Milenkovic8, Walter Bonfig9,10, Jeremy replacement was used for 81.9% patients, relative doses varying across age groups,
W Tomlinson11, Heba Elsedfy12, Antonio Balsamo13, Rita Ortolano13, with a fludrocortisone dose (mg/m2/day, median with interquartile range) of 312
Sabine Hannema14,15, Claire Higham16, Navoda Atapattu17, (208–476) in the 0–1 years, 139 (94–205) in 1–8 years, 54 (42–91) in 8–12 years,
Corina Lichiardopol18, Tulay Guran19, Zehra Abali19, Klaus Mohnike20, 51 (34–76) in 12–18 years, 41 (31–74) in 18–30 years and 85 (51–107) in the over
Martijn JJ Finken21, Ana Vieites22, Feyza Darendeliler23, Ayla Guven24, 30 year-old patients. There was wide variation among different countries and
Marta Korbonits25, Liat de Vries26,27, Eduardo Costa28, Silvia Einaudi29, centres regarding type, dose and timing of glucocorticoid and mineralocorticoid
Hetty van der Kamp30, Violeta Iotova31, Richard Ross1, S Faisal Ahmed32 & treatment.
Nils Krone1 Conclusion
1
Department of Oncology and Metabolism, University of Sheffield, Our findings suggest international variations in hormone replacement therapy,
Sheffield, UK; 2Institute for Experimental Pediatric Endocrinology and with a tendency for higher doses in younger patients. Further evidence regarding
Center for Chronically Sick Children, Charite-Universitätsmedizin Berlin, the impact of different treatment regimens on health outcomes is needed to explore
Berlin, Germany; 3Department of Pediatric Endocrinology, Radboud the benefits of a more uniform approach in the management of CAH.
University Medical Centre, Nijmegen, Netherlands; 4Department of DOI: 10.1530/endoabs.66.OC1.1
Endocrinology and Diabetes, Birmingham Women’s and Children’s
Hospital, Birmingham, UK; 5Department of Internal Medicine, University
of Sao Paulo, Sao Paulo, Brazil; 6Department of Pediatrics, Aarhus
University Hospital, Aarhus, Denmark; 7Pediatric Endocrinology, Internal
Medicine and Pediatric Research Unit, University Hospital Ghent, Ghent
University, Ghent, Belgium; 8Department of Endocrinology, Institute for
Mother and Child Healthcare of Serbia ‘Dr Vukan Čupić’ Belgrade,
Belgrade, Serbia; 9Department of Pediatrics, Technical University Munich, OC1.2
Munich, Germany; 10Department of Pediatrics, Klinikum Wels-Gries-
kirchen, Wels, Austria; 11Oxford Centre for Diabetes, Endocrinology & Pituitary Apoplexy in an adolescent male with Macroprolactinoma
Metabolism, NIHR Oxford Biomedical Research Centre, Churchill presenting as middle cerebral artery infarction
Hospital, Oxford, UK; 12Pediatrics Department, Ain Shams University, Sally Newbold, Ved Bhushan Arya, Ritika Kapoor, Nick Thomas,
Cairo, Egypt; 13Department of Medical and Surgical Sciences, Pediatric Krystal Fox, Simon Aylwin & Charles Buchanan
Unit, Center for Rare Endocrine Diseases, S.Orsola-Malpighi University King’s College Hospital NHS Foundation Trust, London, UK
Hospital, Bologna, Italy; 14Department of Pediatric Endocrinology, Sophia
Children’s Hospital, Erasmus Medical Centre, Rotterdam, Netherlands; Background
15
Department of Paediatrics, Leiden University Medical Centre, Leiden, Pituitary apoplexy is uncommon in childhood and adolescence. Typical clinical
Netherlands; 16Department of Endocrinology, Christie Hospital NHS features are acute confusion, headache, vomiting and visual disturbance. It is
Foundation Trust, Manchester, UK; 17Pediatric Endocrinology, Lady caused by haemorrhage into the pituitary gland. Its association with cerebral
Ridgeway Hospital, Colombo, Sri Lanka; 18Department of Endocrinology, infarction is rare. We report an unusual case associated with a cerebral infarction
University of Medicine and Pharmacy Craiova, Craiova, Romania; secondary to internal carotid artery compression.
19
Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Case
Turkey; 20Department of Pediatrics, Otto-von-Guericke University, 16 year old male was referred to the ‘Stroke Team’ with acute onset confusion,
Magdeburg, Germany; 21Department of Paediatric Endocrinology, Emma visual disturbance, slurred speech and right-sided weakness. He was vomiting and
Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, complained of worsening headache. Examination revealed right-sided increased
Amsterdam, Netherlands; 22Centro de Investigaciones Endocrinológicas tone, reduced power and bi-temporal hemianopia. He was confused and unable to
(CEDIE-CONICET), Hospital de Niños Ricardo Gutiérrez, Buenos Aires, follow commands. Initial CT head revealed 3.5!2 cm sellar/suprasellar mass
Argentina; 23Paediatric Endocrinology Unit, Istanbul University, Istanbul prompting urgent endocrine profile. This revealed Prolactin 87 089 mIU/l [100–
Faculty of Medicine, Istanbul, Turkey; 24Saglik Bilimleri University, 410 mIU/l], Cortisol 494 nmol/l [130–580 nmol/l], TSH 1.0 mIU/l [0.3–
Medical Faculty Zeynep Kamil Maternity and Children Hospital, Pediatric 5.5 mIU/l], T4 5.5 pmol/l [9–25 pmol/l], IGF-1 19.1 [15.6–66.9 nmol/l]. Serum
Endocrinology Clinic, Istanbul, Turkey; 25Centre for Endocrinology, Barts Sodium 127 mmol/l and Osmolality 271 mosm/kg suggested inappropriate ADH
and The London School of Medicine and Dentistry, Queen Mary University secretion. The working diagnosis was macroprolactinoma with TSH deficiency.
of London, London, UK; 26Institute for Diabetes and Endocrinology, In view of neurological signs and symptoms, he underwent CT angiography. This
Schneider’s Children Medical Center of Israel, Petah-Tikva, Israel; revealed tumour mass effect causing luminal occlusion of both internal carotid
27
Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; arteries. MRI confirmed pituitary apoplexy with haemorrhagic fluid levels and
28
Hospital de Clı́nicas de Porto Alegre, Porto Alegre, Brazil; 29Department ischaemic changes in left fronto-parietal region (Middle Cerebral Artery (MCA)
of Paediatric Endocrinology, Regina Margherita Children’s Hospital, distribution). Following treatment with intravenous Hydrocortisone and oral
University of Torino, Torino, Italy; 30Pediatric Endocrinology Wilhelmina Cabergoline, there was significant improvement in focal neurology signs and
Childrens Hospital, University Medical Centre Utrecht, Utrecht, vision. He underwent endoscopic trans-sphenoidal debulking of tumour within
Netherlands; 31Department of Paediatrics, Medical University of Varna, 48 hours. Post-operative imaging confirmed significantly debulked sellar/supra-
Varna, Bulgaria; 32Royal Hospital for Children, University of Glasgow, sellar mass with a maturing left MCA infarct. Histology confirmed pituitary
Glasgow, UK adenoma with strong immunopositivity for prolactin with increased proliferation,
Ki-67 index 7%. Ongoing treatment includes replacement Hydrocortisone,
Introduction Levothyroxine and Growth Hormone (post-op IGF-1 16 [16–67 nmol/l]).
There is no unified approach in clinical practice regarding the medical manage- Cabergoline 500 mcg twice weekly has controlled his prolactin with level now
ment of congenital adrenal hyperplasia (CAH), despite existent international down to 294 mIU/l. Further clinical assessment revealed delayed puberty (G3
guidance. We aimed to explore geographical and temporal variations in the PH2 TV5 ml) consistent with longstanding hyperprolactinaemia effect. Post-
treatment with glucocorticoids and mineralocorticoids of patients with CAH. operative visual fields were normal. Neuro-rehabilitation assessments highlighted
Methods significant new cognitive difficulties. He completed a prolonged hospital stay for
We collected data recorded by 33 centres from 16 countries in the I-CAH Registry. neuro-rehabilitation and has ongoing support in the community.
We analysed patient visits between 1982 and 2018, exploring the type, dose and Conclusion
timing of glucocorticoid and mineralocorticoid replacement. We used the Cerebral infarction following pituitary apoplexy and internal carotid artery
conversion rate: 20 mg hydrocortisone Z 4 mg prednisolone Z 0.25 mg occlusion is rare. Assessment and knowledge of clinical, radiological and
dexamethasone Z 25 mg cortisone acetate. biochemical features of pituitary apoplexy is important in patients presenting with
Results acute neurology.
4934 patient visits from 601 patients with CAH (56% females) were analysed. DOI: 10.1530/endoabs.66.OC1.2
Glucocorticoid replacement consisted primarily of hydrocortisone in children

1
Oral Communications 2 Centre for Endocrinology, William Harvey Research Institute, Queen Mary
University London, London, UK; 2Department of Paediatrics,
OC2.1 Endocrinology, Diabetology and Cardiology Division, Medical University
National United Kingdom evidence- and consensus-based guidelines for of Bialystok, Bialystok, Poland
the investigation, treatment and long-term follow-up of paediatric
craniopharyngioma
Hoong-Wei Gan1, Paul Morillon2, Assunta Albanese3, Kristian Aquilina4, Introduction
Konstantinos Barkas5, Chris Chandler5, Yen-Ch’ng Chang6, Bloom syndrome (BS) is a rare autosomal recessive disorder caused by mutations
Christina Daousi7, Evangelos Drimtzias8, Sarah Farndon9, Tom Jacques1, in the BLM gene. Classic dysmorphic features include a long, narrow face,
Marta Korbonits10, Adam Kuczynski4, Jennifer Limond11, micrognathism and prominent nose and ears. Other features of the disease include
Louise Robinson12, Ian Simmons8, Nick Thomas5, Sophie Thomas13, pre- and post-natal growth failure, skin rash following sun exposure, hyper-
Nicola Thorpe14, Faraneh Vargha-Khadem1, Daniel Warren8, pigmented areas or cafe-au-lait lesions, high-pitched voice and immuno-
Bassel Zebian5, Ashley Gamble15, Sophie Wilne13, Barney Harrison16, deficiency. The most serious complication of BS is the significant increase in
Helen Spoudeas4 & Conor Mallucci17 risk of malignancy due to genomic instability.
1 Case report
UCL Great Ormond Street Institute of Child Health, London, UK;
2
Imperial College Healthcare NHS Trust, London, UK; 3St. George’s A 5-year-old girl presented to her local endocrinology clinic due to short stature.
University Hospitals NHS Foundation Trust, London, UK; 4Great Ormond The patient was born at term (39/40 weeks) with a birth weight and length of
Street Hospital for Children NHS Foundation Trust, London, UK; 5King’s 1580 g (SDS K4.7) and 44 cm (SDS K2.89), respectively (small for gestational
College Hospital NHS Foundation Trust, London, UK; 6University College age, SGA). From birth, she suffered recurrent infections of upper and lower
London Hospitals NHS Foundation Trust, London, UK; 7University of respiratory tract, frequently requiring antibiotic treatment. She also developed
Liverpool, Liverpool, UK; 8The Leeds Teaching Hospitals NHS Trust, hypothyroidism. Physical examination revealed significant short stature (height
Leeds, UK; 9Cambridge University Hospitals NHS Foundation Trust, SDS K5.3) and low BMI (SDS K1.8). She had a long narrow face with
Cambridge, UK; 10Queen Mary University of London, London, UK; micrognathia and café-au-lait spots were noted on her abdomen and right
11
University of Glasgow, Glasgow, UK; 12Manchester University NHS popliteal fossa. Baseline blood tests were unremarkable and both growth hormone
Foundation Trust, Manchester, UK; 13Nottingham University Hospitals (GH) stimulation and IGF-1 levels were within the normal range. As the patient
NHS Trust, Nottingham, UK; 14The Clatterbridge Cancer Centre NHS was born SGA with no catch-up growth, she commenced GH therapy. Her growth
Foundation Trust, Liverpool, UK; 15Children’s Cancer and Leukaemia velocity on hGH over a 9-month treatment period was 5.4 cm/year (5.8 cm/year
Group, Leicester, UK; 16Sheffield Teaching Hospitals NHS Foundation prior to treatment). Given her growth failure and dysmorphic features, the patient
Trust, Sheffield, UK; 17Alder Hey Children’s NHS Foundation Trust, was also referred for genetic testing. Whole exome sequencing identified a
Liverpool, UK homozygous mutation in the BLM gene (91306246C>T, c.1933C>T, p.Q645*)
which is recognised to cause Bloom syndrome. Due the increased risk of cancer
development in Bloom syndrome, the decision was made to stop GH therapy.
Aims Conclusions
Although rare, craniopharyngiomas are the commonest suprasellar tumour in Genetic diagnosis in children with short stature and concomitant dysmorphic
childhood. Despite high overall survival, children and young people !19 years features is important and in some rare syndromes GH therapy is contraindicated.
with craniopharyngiomas are at risk of multiple relapses and long-term tumour- Bloom syndrome causes pre- and post-natal growth failure and as such, may be
and treatment-related morbidity. We sought to provide, for the first time, a referred to paediatric endocrinology. This case highlights the importance of
national standard for best practice based on currently available evidence for the detailed phenotypic assessment and referral for genetic testing in cases of
assessment, treatment and follow-up of paediatric craniopharyngiomas under the undiagnosed syndromic short stature, particularly when considering GH therapy.
auspices of the RCPCH, UK CCLG and BSPED.
DOI: 10.1530/endoabs.66.OC2.2
Methods
Clinical questions were formulated based on a PICO (Population, Intervention,
Comparison, Outcome) format by a multidisciplinary Guideline Development
Group. Systematic searches were conducted via the Ovid MEDLINE (1946-
February 2017) and Cochrane Library (2016, Issue 12) databases, identifying
2023 separate research articles. Publications underwent a three-tier filtering Oral Communications 3
process and 300 were reviewed using the GRADE approach. Where OC3.1
recommendations could not be made, a two-stage international Delphi consensus
process was conducted. The guideline was developed using AGREE II criteria. Using quality improvement methods to enhance HbA1c outcomes for
Results newly diagnosed children and young people with diabetes
44 clinical questions were identified, leading to 35 recommendations largely Frances Hanson, Tracey Stephenson, Jane Exall, Carol Bacon,
based on low to very low quality evidence. 30 further recommendations achieved Carole Gelder, Sarah Buggins & Callum Rodgers
>70% agreement via the Delphi consensus process. Important highlights include Leeds Children’s Hospital, Leeds, UK
the recommendation that craniopharyngiomas are managed in tertiary paediatric
centres with sufficient neuro-oncology, neurosurgery, endocrinology, radiology,
Introduction
pathology and neuropsychology multidisciplinary experience. At diagnosis,
There is increasing emphasis on stringent glycaemic control (HbA1c
tumours should be graded using the ‘Paris’ grading system (Puget et al., J
!48 mmol/mol) within the first year of diagnosis for all types of diabetes, to
Neurosurg 2007; 106(Suppl 1):3–12) and subsequent surgical treatment tailored
preserve metabolic memory and reduce future risk of sub-optimal diabetes
to avoid hypothalamic damage, with adjuvant upfront radiotherapy being offered
outcomes. Retrospective data collected on two previous annual cohorts of
where tumour resection is incomplete. Detailed recommendations on the
children and young people (CYP) with diabetes revealed only 9% achieved the
neuroendocrine, ophthalmological and psychological pre-treatment assessment
HbA1c ! 48 mmol/mol target at 12 months post diagnosis despite initial HbA1c
of patients and long-term follow-up of survivors are also made, with a review on
improvement until 6 months.
the safety of growth hormone replacement therapy in this cohort.
Aim
Conclusions
To achieve HbA1c!48 mmol/mol in 25% of patients and HbA1c
These guidelines provide the first evidence- and consensus-based national
!58 mmol/mol in 75% of patients at 12 months post diagnosis.
recommendations for the management of paediatric craniopharyngioma, and
Method
highlight the need for further research in areas such as the efficacy of proton beam
A small staff representation from the wider multi-disciplinary team employed
therapy, radiosurgery and intracystic therapies in children, and the management
Quality Improvement processes focusing on improving HbA1c and self-
of late effects such as hypothalamic obesity. Through their implementation, we
management skills during the first year of diabetes care. Consensus from this
hope to achieve better consistency in the quality of care of such patients and
group enabled intervention adoption by the wider CYP Diabetes Team.
improve long-term quality of survival.
Interventions included a focused timeline from diagnosis, more frequent team
DOI: 10.1530/endoabs.66.OC2.1 contacts and clinic appointments, psychology led age specific new patient groups,
earlier home downloading and data interpretation support and use of a digital
education resource (DigiBete). Real time data collection highlighted those
patients not achieving HbA1c targets and facilitated more intensive team support.
Results
OC2.2 HbA1c data from 34 new patients, aged 1–18 years, was compared with two
A rare but very important cause of growth failure previous patient cohorts (2015/2016 and 2016/2017). Significant improvement
Emily Cottrell1, Tasneem Ladha1, Hanna Borysewicz-Sańczyk2, was demonstrated across all data collection points. At 12 months post diagnosis,
Beata Sawicka2, Artur Bossowski2 & Helen L Storr1 the percentage of patients achieving HbA1c ! 48 mmol/mol increased from 9%

to 31% whereas those achieving HbA1c ! 58 mmol/mol increased from 46% and decreased diabetes burden for them. Many ethical dilemmas, especially the
to 69%. non-regulated off-license use of this technology, still persist.
Conclusion DOI: 10.1530/endoabs.66.OC3.2
Project success has resulted from a dedicated multi-disciplinary team with
frequent and focused time-limited QI meetings, adoption of a ‘fail fast’ approach
and regular review of real time data. The appointment of a QI champion was
essential. More intensive early family support and increasing consistency using
the timeline have contributed to improved outcomes in the new patient cohort.
This is now being embedded as ‘routine practice’ within the wider team. Oral Communications 4
Resources to support and empower families to interpret their own data and OC4.1
confidently make insulin adjustments between clinic visits will continue to be
Mortality after childhood growth hormone treatment in the UK – the
developed.
SAGhE study
DOI: 10.1530/endoabs.66.OC3.1 Rosie Cooke1, Anthony Swerdlow1, Peter Clayton2, Sally Tollerfield3
& Gary Butler3
1
Institute of Cancer Research, London, UK; 2University of Manchester,
Manchester, UK; 3UCL GOS Institute of Child Health, London, UK
OC3.2
Background: Recombinant human growth hormone (r-hGH) has been used for
2 year experience of ‘Do-It-Yourself ’ Hybrid Closed Loop in an more than 30 years and indications for r-hGH have multiplied worldwide. There
adolescent with Type 1 Diabetes has been concern that it might raise mortality, but published data are limited.
Shankar Kanumakala1 & Peter Lynton2 Methods
1
Brighton & Sussex University Hospitals NHS Trust, Brighton, UK; 2Parent, The cohort comprised of 3902 UK patients over 18 years of age in 2009, treated
Brighton, UK with childhood r-hGH at all the major UK growth centres. The total European
cohort was 24 232 from eight countries (including the UK), with > 400 000
patient years of follow-up. Patients were classified a priori based on pre-treatment
Introduction
perceived mortality risk from their underlying disease and followed for cause-
The use of Closed Loop (CL) system has slowly progressed from using a short
specific mortality. Person-years at risk of mortality and expected rates from
time overnight to prolonged periods under everyday living conditions. In the last
general population data were used to calculate standardized mortality ratios
few years, Do-It-Yourself Closed Loop (DIY-CL) technology has become openly
(SMRs).
available as part of ‘patient-led’ global initiative (#Wearenotwaiting) outside the
Results
conventional regulatory pathways, raising many medico-legal and ethical
In the UK, low-risk patients with isolated GH deficiency or idiopathic short
dilemmas.
stature, all-cause mortality was not increased [SMR 1.0 (95% confidence interval
Methods
0.4–2.4)] nor was it increased in children born small for gestational age [SMR 1.1
Majority of the DIY-CL users are adults; we describe using this new technology
(0.5–2.3)], but in contrast, increases in mortality in this sub-category were seen in
as a ‘parent-led’ initiative for 2 years in an adolescent. Type 1 diabetes (T1D) was
the French sub-cohort. In patients at moderate, or high risk, mortality was clearly
diagnosed at 3.5 years in 2008; Islet Cell antibodies were positive at diagnosis;
increased [SMR 3.6 (2.8–4.7) and 16.6 (14.0–19.7), respectively] in the UK
and patient’s father was known to have T1D too.
cohort, similar to the findings from all countries. Mortality was not associated
Results
with mean daily or cumulative doses of r-hGH for any of the risk groups. Cause-
specific mortality from diseases of the circulatory and haematological systems
was increased in all risk groups.
Average Conclusions
Insulin dose Mean HbA1c In this, the largest cohort with the longest follow-up for r-hGH treated children,
Age Insulin (units/kg (mmol/mol) all-cause mortality was strongly related to underlying diagnosis. Results from
Time Period (Years) Regimen* per day) (%) patients with isolated GH deficiency or idiopathic short stature or SGA in the UK
suggest that r-hGH treatment is not associated with increased all-cause mortality.
2009–2010 4–5 BD 0.78 66 (8.2%) However, mortality from certain causes was increased, emphasizing the need for
2011–16 6–11 CSII 0.82 54 (7.1%) further long-term surveillance.
2017 12 CSII C CGM 0.79 55 (7.2%)
2018–2019 13–14 DIY-CL 1.03 41 (5.9%) DOI: 10.1530/endoabs.66.OC4.1
*BD – Twice daily insulin injections; CSII – Continuous Subcutaneous Insulin

Infusion; CGM – Continuous Glucose Monitoring
CGM sensor data capture over 90 days in Apr–Jun 2019 was 97.2%; lost readings OC4.2
were mainly due to sensor warm up. Burosumab initiation in a UK XLH cohort: real-world use resonates
with research evidence
Poonam Dharmaraj1, Christine Burren2, Moira Cheung3, Raja Padidela4,
Zulf Mughal4, Nick Shaw5, Vrinda Saraff5, Ruchi Nadar5, Talat Mushtaq6,
Glucose Renuka Ramakrishnan1, Senith Senniappan1, Sophia Sakha3, John Barton2,
Value Number of Ian Tucker2, Lauren Rayner4, Paul Arundel7, Robyn Gilbey-Cross3,
Description (mmol/l) readings % of time Alexander Tothill8, James Philip9, Nadine Sawoky9, Paul Connor9 &
Euglycaemia 4–10 22 819 92.4% Leigh Mathieson9
1
Level 1 Hypoglycaemia 3–3.9 683 2.8% Alder Hey Children’s Hospital, Liverpool, UK; 2Bristol Royal Hospital for
Level 2 Hypoglycaemia !2.9 142 0.6% Children, Bristol, UK; 3Evelina Children’s Hospital, London, UK; 4Royal
Level 1 Hyperglycaemia 10.1–13.9 1003 4.0% Manchester Children’s Hospital, Manchester, UK; 5Birmingham Children’s
Level 2 Hyperglycaemia O13.9 59 0.2% Hospital, Birmingham, UK; 6Leeds Teaching Hospitals, Leeds, UK;
7
Sheffield Children’s Foundation Trust, Sheffield, UK; 8MAP BioPharma,
Cambridge, UK; 9Kyowa Kirin International, Galashiels, UK
Parents reported numerous advantages (improved sleep & quality of life; no fear
of hypoglycaemia; decreased diabetes care burden) and broadly no disadvantages, Objectives
but high costs if not funded. Adolescent reported many advantages (100% school X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia
attendance; easy to check if system not working, less obvious than pump and no characterised by low blood phosphate levels which lead to inadequate
huge effect on sugar levels if a bolus dose is missed!) and no disadvantages. mineralisation of bone resulting in rickets, skeletal abnormalities, physical
Conclusions impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human
DIY–CL system appears safe and effective in reducing hypoglycaemia, monoclonal-antibody, and the first treatment to target the underlying pathophy-
minimising hyperglycaemia and achieving good HbA1c consistently over 2 siology of XLH. We report relevant real-world biochemical data following the
years, even during adolescence. It improved quality of life for patient & family first 6 months of burosumab treatment.

Methods signalling, due to defective protein expression and a shorter protein half-life.
An early access program (EAP) for burosumab was made available for children in Moreover, we investigated the role of Lgr4 in a knock-out mouse model: Lgr4C/-
the UK with XLH in 12 specialist centres. Inclusion criteria for the EAP included mice had a delayed onset of puberty and fewer GnRH neurons compared to
radiographic evidence of disease, XLH confirmed by genetic PHEX mutation or Lgr4C/C mice, both in early embryogenesis and at the hypothalamus, whereas
familial X-linked inheritance mutation or family history. Patients must have also Lgr4-/- mice failed to enter puberty and showed a significant reduction in GnRH
had an unsatisfactory response to conventional treatment. EAP enrolment was neurons.
between January and March 2018. 135 of 142 applications were approved. 132 Conclusions
have commenced treatment (dose in accordance with EMA marketing Defects in LGR4, acting via the Wnt signalling pathway, affect GnRH neuron
authorisation), of whom 31 have completed a median of 24 weeks (22–26 development in fetal life, resulting in a phenotype of self-limited DP. Our findings
weeks) of treatment. contribute to the ongoing exploration of genetic factors controlling pubertal
Results timing.
Mean age enrolled was 7.2 years (range 1.6–14.7), 68% female and 32% male. DOI: 10.1530/endoabs.66.OC4.3
Mean height and weight at week 0 was 114.9 cm (75–157.9 cm) and 27.1 kg
(10.5–67.5 kg) respectively. Mean dose administered was 0.51 mg/kg (0.28–
0.95 mg/kg) at week 0 and 0.89 mg/kg (0.25–2.01 mg/kg) at week 24 (22–26
weeks). Mean fasting serum phosphorus was 0.73 mmol/l (0.5–0.91 mmol/l) in
week 0 rising to 1.06 mmol/l (0.77–1.48 mmol/l) at week 24 (22–26 weeks)
representing a 45% increase in serum phosphate. Mean serum ALP fell from
591.5 IU/l (261–4089 IU/l) at week 0 to 353.2 IU/l (190–733 IU/l) at week 24 OC4.4
(22–26 weeks), representing 40% decrease in ALP. No patients discontinued A novel clinical risk score that accurately predicts recurrence of
treatment due to adverse events. craniopharyngioma – a multicentre cohort study
Conclusions Nikolina Kyprianou1, James Blackburn1, Rachael Tan1, Marta Korbonits1,
Early data from treating children and young people with XLH with burosumab in Mehul Dattani2, Pinaki Dutta3, Anil Bhansali3, Ashutosh Rai3,
a real-world UK setting demonstrate that key biochemical responses are aligned Teresa Ribalta4, Gaetano Pietro Bulfamante5,6, Valentina Massa5,6,
with the clinical research program findings. Ongoing monitoring and research is Federico Roncaroli7, Jane Evanson8, Tanja Skoric9, Darko Kastelan9,
required to confirm the biochemical response translates to the expected Kanna Gnanalingham10, Rod Mitchell11, Antonio Mario Bulfamante6,
subsequent impact on skeletal and non-skeletal outcomes, including linear Jesus Argente12, Andres Goycoolea13, Jorge Torales14, Betina Biagetti15,
growth and deformities. Laura Audi16, Eugenia Resmini17, Susan M Webb17, Ritika R Kapoor18,
DOI: 10.1530/endoabs.66.OC4.2 Christopher Chandler19, Nicolas Sampron20, Cristina Preda21,
Amar Ahmad22,23, Evelien F Pease Gevers1,24 & Carles Gaston-Massuet1
1
Centre for Endocrinology, William Harvey Research Institute, Queen Mary
University of London, London, UK; 2Genetics and Genomic Medicine
Programme UCL Great Ormond Street Institute of Child Health, London,
UK; 3Postgraduate Institute of Medical Education and Research,
OC4.3 Chandigarh, India; 4Sant Joan De Deu Childreńs Hospital, Barcelona, Spain;
Defects in LGR4 Wnt-b-catenin signalling impair GnRH network 5
Unit of Pathology, ASST Santi Paolo e Carlo, Milan, Italy; 6Department of
development, leading to delayed puberty Health Sciences, Università degli Studi di Milano, Milan, Italy; 7Cellular
Alessandra Mancini1, Sasha R Howard1,2, Claudia P Cabrera3, Pathology, Salford Royal Foundation Trust, Salford, UK; 8Neuroradiology
Michael R Barnes3, Alessia David4, Karoliina Wehkalampi5, Department, Barts Health NHS Trust, London, UK; 9Department of
Gilbert Vassert6, Anna Cariboni7, Maria Isabelle Garcia6, Leonardo Guasti1 Endocrinology, University Hospital Centre Zagreb, Zagreb, Croatia;
10
& Leo Dunkel1 Greater Manchester Neuroscience Centre, Salford Royal Foundation
1
Centre for Endocrinology, William Harvey Research Institute, Queen Mary Trust, Salford, UK; 11MRC Centre for Reproductive Health, Queens
University of London, London, UK; 2Great Ormond Street Hospital for Medical Research Institute, Edinburgh, UK; 12Department of Paediatrics &
Children NHS Trust, London, UK; 3Centre for Translational Bioinformatics, Paediatric Endocrinology, Hospital Infantil Universitario Niño Jesús,
William Harvey Research Institute, Queen Mary University of London, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid,
London, UK; 4Centre for Integrative Systems Biology and Bioinformatics, Madrid, Spain; 13Neurosurgery Department, Instituto de Neurocirugia
Department of Life Sciences, Imperial College London, London, UK; Asenjo, Santiago, Chile; 14Neurosurgery Department, Hospital Clinic of
5
Children’s Hospital, Helsinki University Hospital and University of Barcelona, Barcelona, Spain; 15Endocrinology Department Vall d’Hebron
Helsinki, Helsinki, Finland; 6Université Libre de Bruxelles, Brussels, University Hospital, Barcelona, Spain; 16Growth and Development
Belgium; 7Department of Pharmacological and Biomolecular Sciences, Research Unit, Vall d’Hebron Research Institute (VHIR), Center for
University of Milan, Milan, Italy Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud
Carlos III, Barcelona, Spain; 1713IIB-Sant Pau and Department of
Endocrinology/Medicine, Hospital Sant Pau, UAB, and Centro de
Background Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER,
The initiation of puberty is heralded by increasing gonadotropin-releasing Unidad 747), ISCIII, Barcelona, Spain; 18Department of Paediatric
hormone (GnRH) secretion from the hypothalamus. During embryonic life the Endocrinology, Kings College Hospital NHS Foundation Trust, London,
GnRH neuroendocrine network develops thanks to a coordinated migration of UK; 19Department of Neurosurgery, Kings College Hospital NHS
neurons from the nasal placode to the forebrain. Our group has previously Foundation Trust, London, UK; 20Chair of EANS young neurosurgeons
demonstrated that dysregulation in GnRH neuronal migration leads to delayed committee Servicio de Neurocirugı́a Hospital Universitario Donostia,
pubertal onset. Late puberty affects up to 2% of the population and is associated San Sebastian, Spain; 21University of Medicine and Pharmacy ‘Grigore T.
with adverse health outcomes. Self-limited delayed puberty (DP) most commonly Popa’, Iasi, Romania; 22Cancer Intelligence Department, Cancer Research
segregates within families with an autosomal dominant inheritance pattern, UK, London, UK; 23William Harvey Research Institute, Queen Mary
indicating a strong genetic basis. However, the genes underlying DP remain University of London, London, UK; 24Department of Paediatric
mainly unknown. Endocrinology, Barts Health NHS Trust-Royal London Hospital, London,
Aims and methods UK
To discover novel genetic mutations in pathways regulating GnRH neuronal
development in our large, accurately phenotyped cohort of patients with DP.
Whole exome sequencing was performed on DNA from 160 individuals of 67 Introduction
multi-generational families affected with DP. Variants returned were analysed to Craniopharyngiomas (CPs) are histologically benign tumours but are clinically
identify rare, potentially pathogenic variants enriched in case versus controls and associated with significant morbidity and mortality. Recurrence of CPs is known
with biological relevance to GnRH neuronal development pathways. The to influence mortality, but apart from the extent of surgical resection, no clinical
candidate gene LGR4, identified via this strategy, was investigated using an characteristics have been shown to predict recurrence. Complete resection is
array of in silico, in vitro and in vivo techniques. difficult due to their infiltrative behaviour and unacceptable morbidity. Thus,
Results predictors of risk of recurrence are needed.
We identified three rare missense variants in LGR4 in six unrelated families (17 Aim
affected individuals) and all segregated with the DP trait with the expected To establish a multinational cohort of patients with CP and employ their clinical
autosomal dominant inheritance. These variants are highly conserved and parameters to design a clinical tool that can predict the risk of CP recurrence.
predicted to be deleterious by the main prediction software tools. Lgr4 was Methods
specifically expressed in mice olfactory epithelium and the vomeronasal organ at 225 patients from 15 centres (8 countries) participated in our mixed prospective
different embryonic stages. The LGR4 mutants showed impaired Wnt b-catenin and retrospective observational cohort study. Tumour subtyping was performed

by three histopathologists. Brain MRI (nZ172) was scored for tumour size and OC4.6
hypothalamic invasion by a single neuroradiologist. A broad range of clinical data Understanding differences of sexual differentiation (DSD) MDT services
was collected. Statistical analyses were performed in R (2-sided, P!0.05 across the UK; current service provision and sharing best practice
assumed significant); the primary outcome for prediction was ‘time-to-first- Danielle Eddy1, Elizabeth Crowne1,2, Julie Alderson1 & Mars Skae3
recurrence’. 1
Results Bristol Royal Hospital for Children, Bristol, UK; 2On behalf of DSD
Median age at presentation was 19.7 years (IQR 10.6–47.3) and 89% were Special Interest Group, BSPED, UK; 3Royal Manchester Children’s
adamantinomatous. Fifty-six percent had a recurrence with a median ‘time- Hospital, Manchester, UK
to-first-recurrence’ of 23 months (IQR 9–44). A multivariate Cox model was
performed using age, gender and clinical parameters before surgery (diagnosis Background
decade; symptom duration; tumour subtype, size, consistency and location; DSD services are evolving across the UK in response to both family, professional
hypothalamic invasion; endocrinopathies) and after surgery (transsphenoidal/- and societal pressures but MDT provision and access to specialist DSD services
craniotomy, complete/incomplete, radiotherapy) as risk predictors of time- varies. In November 2017, DSD Clinical Standards were published by the BSPED
to-recurrence. A risk-score was computed as the linear predictor of the fitted Clinical Committee with the aim to improve and standardise DSD patient care and
multivariate Cox model. 5th, 20th and 99th centiles of the risk-score were used to these were audited in March 2019. 95% of DSD centres responded with 85%
categorise the patients into low, medium or high risk respectively. Kaplan–Meier listing psychology as part of their MDT.
curves showed a clear separation in ‘recurrence-free-survival’ between the three Aim
risk groups (P!0.0001). A cut-off value of 0.948 was selected for a 92% 1. To understand in greater depth the current profile of DSD MDTs in the UK,
sensitivity at one-year follow-up (95%CI:84–98%), and corresponding specificity recognise scope for service development and share best practice
of 35% (95%CI:27–42%). Kaplan–Meier curves also showed that radiotherapy 2. Review current psychological service in DSD and establish key needs for
resulted in significantly longer recurrence-free-survival (P!0.006). provision
Conclusion Method
This is the first study that uses a large clinical dataset to design a model to predict All clinical leads of DSD MDTs across the UK were invited to participate in a
risk of CP recurrence, combining several clinical characteristics. This model will semi-structured telephone interview. This interview targeted the areas of MDT
facilitate identification of other risk factors and following external validation, can structure, geography and population, referral processes and psychological
be used in clinical practice to improve clinical care. provision.
DOI: 10.1530/endoabs.66.OC4.4 Results
Initial results show a wide variety in the structure of the MDT across the UK with
a ‘functioning’ MDT taking many forms. The current standards do not distinguish
between core members of the MDT vs wider peripheral input, raising questions
about whether physical attendance at MDT provides superior service for DSD
patients. There is variable provision of integrated psychological care within DSD
MDTs. Some tertiary centres are unable to include routine psychological
assessment and intervention. Some services have a referral path for arm’s length
OC4.5 psychological consultation. Others have a psychologist present and contributing
Novel genetic defects in a cohort of Silver–Russell Syndrome (SRS) and to MDT clinical reviews but with inadequate provision for direct psychological
SRS-like patients work with parents and children. Few have the resource to involve expert
Emily Cottrell1, Miho Ishida2, Gudrun Moore2 & Helen L Storr1 psychological care as part of the acute assessment and diagnostic phase. Many
1
Centre for Endocrinology, William Harvey Research Institute, Queen Mary clinicians listed psychology as the most ‘needed’ improvement to their service.
University London, London, UK; 2Great Ormond Street Institute of Child There has been innovative use of extended services such as genetic counsellors
Health, University College London, London, UK and patient support groups as alternative sources of psychological support but
clinicians do not feel these provide the full range of formal psychological services
required for patient needs. Further exploration of what constitutes minimum
Background effective psychological care within a specialist DSD multi-professional service is
Silver-Russell Syndrome (SRS) is a clinically and genetically heterogenous needed.
condition. 40% patients with ‘clinical’ SRS remain without a genetic diagnosis
despite fulfilling the Netchine-Harbison Clinical Scoring System (NH-CSS) DOI: 10.1530/endoabs.66.OC4.6
criteria. There is increasing recognition of the wide range of clinical phenotypes
within the SRS spectrum and overlap with other short stature syndromes.
Methods
We analysed 26 undiagnosed patients with features of SRS by whole exome
sequencing (WES). There were 2 patient cohorts: (1) Twelve SRS (nZ9) and
SRS-like (nZ3) patients negative for 11p15 LOM C/K upd(7)mat, (2) Fourteen
patients referred to our centre with undiagnosed short stature (SS) who fulfilled at OC4.7
least 2/6 NH-CSS with additional SRS features (8M, mean age 5.6 years, range Novel variants in the Leucine-zipper-like transcription regulator 1
1.2–17 years, mean BW SDS K1.98, range C0.95 to K4.58, mean height SDS (LZTR1) gene cause Noonan syndrome phenotype by upregulation of
K3.73, range K2.21 to K7.07). Genetic variants were filtered using our ‘virtual’ the RAS-MAPKinase pathway
gene panel with curated list of 85 candidate SRS genes. This included genes with Sumana Chatterjee1, Debora Bertola2, Chizo Agwu3, Maria Karantza4,
important roles in growth, methylation and histone modification. 16 SRS and
SRS-like patients were also assessed for copy number variation (CNV) by Array Emily Cottrell1, Lucy Shapiro1, Avinaash V Maharaj1, Jack Williams1,
CGH with median resolution of 120 Kb for 15 patients and 1 Mb for 1 patient due Martin O Savage1, Carles Gaston-Massuet1, Louise A Metherell1 &
to reduced DNA quality. Helen L Storr1
1
Results Centre for Endocrinology, William Harvey Research Institute, Barts and
WES identified rare, putative genetic variants in 5/26 (19%) individuals. In 1 the London School of Medicine, Queen Mary University London, London,
patient we identified a homozygous frameshift ANKRD11 mutation, recognised UK; 2Department of Paediatrics, University of Sao Paulo, Sao Paolo, Brazil;
3
to cause KBG syndrome, a rare genetic disorder with a SS phenotype and Department of paediatrics, Sandwell and West Birmingham Hospitals,
triangular face. Additionally, 4 rare variants in 3 SRS candidate genes were Birmingham, UK; 4Mitera Children’s Hospital, Athens, Greece
validated by Sanger sequencing. 2 were predicted damaging by R 2/3 of SIFT,
PolyPhen-2 and CADD pathogenicity scores. 1 variant was predicted to cause Objectives
aberrant splicing and another is in a highly conserved region in the C-terminal Noonan Syndrome (NS) is an autosomal dominant multi-system disorder
catalytic domain. Functional investigation is planned to determine pathogenicity. characterised by short stature (SS), distinctive facial features and cardiovascular
CNVs were detected in 2/16 (13%) patients. 16q23 and 17q21 deletions in a male abnormalities. Mutations in multiple genes regulating the RAS-MAPK pathway
patient and 9q34 deletion in a female patient with learning difficulty, clinodactyly have been identified in NS including 5 recently described novel LZTR1 variants.
and hypoglycaemic episodes. We identified 2 novel LZTR1 variants in patients with features of growth hormone
Conclusion insensitivity and NS. The molecular function of LZTR1 is unknown and we aimed
We identified 2 CNVs and 5 rare variants (30% with putative diagnosis) in 7 to assess the impact of the LZTR1 variants on (1) LZTR1 protein expression and
undiagnosed SRS and SRS-like patients. This work expands our knowledge of (2) RAS-MAPK pathway function.
SRS genetic aetiology and SRS subtypes. Methods
DOI: 10.1530/endoabs.66.OC4.5 Targeted and whole exome sequencing data were analysed by Ingenuity Variant
Analysis using established bioinformatic pipelines. We identified 2 novel

heterozygous missense LZTR1 gene variants [c.466A>G; p.K156E and c.23G>C; functional enrichment of genes for the metabolism of steroids (FDR 0.045) and
p.G8A] in 2 subjects and 5 previously published heterozygous inactivating cortisol synthesis and secretion (FDR 0.0496). Further interrogation revealed
missense LZTR1 variants [c.742G>A; p.G248R, c.850C>T; p.R284C, c.740G>A; significant downregulation of steroidogenic genes, with reduced transcript levels
p.S247N, c.356A>G; p.Y119C, and c.859C>T; p.H287Y]. Site-Directed of STAR, CYP21A2 and CYP11B1 in the SGPL1-KD H295R.
Mutagenesis generated the 7 LZTR1 variants in WT-LZTR1 vector (pcDNA- Conclusion
Myc-Hist-LZTR1) and constructs were verified by Sanger sequencing. HEK293 Our results are in keeping with a prominent role for sphingolipids in modulating
cells were transiently transfected with variant and WT LZTR1 in 3 technical the acute phase of steroidogenesis, suggesting that alterations in sphingolipid
replicates. Western blot (WB) analysis was performed, using anti-c-Myc, anti- metabolism due to SGPL1 deficiency negatively impact the expression of genes
ERK and anti-pERK antibodies (anti-beta-actin/GAPDH as controls). responsible for steroid hormone biosynthesis.
Results DOI: 10.1530/endoabs.66.OC4.8
The 7 patients had characteristic facial features of NS (downslanting palpebral
fissures, hypertelorism, short nose), 6/7 had cardiac defects and 5/7 had short
stature (height SDS K2.3 to K1.8). WB confirmed significantly reduced mean
LZTR1 protein expression in the 7 mutants (0.064G0.01, 0.046G0.01, 0.053G
0.01, 0.042G0.003, 0.046G0.01, 0.039G0.005 and 0.058G0.003, respectively)
vs WT(0.277G 0.02); P%0.001 for all variants. There was significant increase in OC4.9
mean p-ERK:total ERK ratios in mutant (0.0067G0.0008, PZ0.0281; 0.0049G Health status of children aged 8–18 years with 21-hydroxylase
0.0003, PZ0.0139; 0.0099G0.0006, PZ0.0049; 0.0058G0.0003, PZ0.0081;
deficiency in the United Kingdom: results of a multi-centre cohort study
0.0057G0.0003, PZ0.0079; 0.006G0.0003, PZ0.006; 0.0056G0.0002, Irina-Alexandra Bacila1, Sundus Mahdi1, Carlo L Acerini2, Ruth Krone3,
PZ0.0047, respectively) vs WT(0.0026G0.0002) suggesting enhanced ERK
phosphorylation and up-regulation of RAS-MAPK pathway. Leena Patel4, Sabah Alvi5, Tabitha Randell6, Evelien Gevers7,
Conclusions Mehul Dattani8, Timothy Cheetham9, Andreas Kyriakou10, Fiona Ryan11,
Novel LZTR1 variants reduce LZTR1 protein expression. Enhanced RAS-MAPK Elizabeth Crowne12, Justin H Davies13, Urmi Das14, S Faisal Ahmed10 &
signalling would be consistent with other NS-causing gene mutations e.g. Nils Krone1
1
PTPN11. LZTR1 may negatively regulate this critical cellular pathway and Academic Unit of Child Health, Department of Oncology and Metabolism,
further functional work is underway. University of Sheffield, Sheffield, UK; 2Department of Paediatrics,
University of Cambridge, Cambridge, UK; 3Birmingham Women’s &
DOI: 10.1530/endoabs.66.OC4.7 Children’s Hospital, Birmingham, UK; 4Paediatric Endocrine Service,
Royal Manchester Children’s Hospital, Manchester University NHS
Foundation Trust, Manchester, UK; 5Leeds General Infirmary, Leeds, UK;
6
Nottingham Children’s Hospital, Nottingham, UK; 7Centre for Endo-
crinology, William Harvey Research Institute, Queen Mary University
OC4.8 London, London and Barts Health NHS Trust – The Royal London Hospital,
London, UK; 8Great Ormond Street Hospital, London, UK; 9Great North
SGPL1 deficiency leads to accumulation of sphingolipid species and Children’s Hospital, University of Newcastle, Newcastle, UK; 10Develop-
downregulation of key enzymes within the steroidogenic pathway mental Endocrinology Research Group, University of Glasgow, Glasgow,
Avinaash Maharaj1, Jack Williams1, Tülay Güran2, Debora Braslavsky3, UK; 11Oxford Children’s Hospital, Oxford University Hospitals NHS
Josefina Casas4, Louise Metherell1 & Rathi Prasad1 Foundation Trust, Oxford, UK; 12Bristol Royal Hospital for Children,
1
Centre for Endocrinology, William Harvey Research Institute, John Vane University Hospitals Bristol Foundation Trust, Bristol, UK; 13University
Science Centre, Queen Mary, University of London, Charterhouse Square, Hospital Southampton, Southampton, UK; 14Alder Hey Children’s Hospital,
London, UK; 2Marmara University, School of Medicine, Department of Liverpool, UK
Paediatric Endocrinology and Diabetes, Istanbul, Turkey; 3Centro de
Investigaciones Endocrinológicas ‘Dr. Cesar Bergadá’ (CEDIE) –
CONICET – FEI – División de Endocrinologı́a, Hospital de Niños ‘Ricardo Introduction
Gutiérrez,’, Buenos Aires, Argentina; 4Research Unit on BioActive There is limited knowledge on the impact of congenital adrenal hyperplasia
Molecules (RUBAM), Department of Biomedicinal Chemistry, (CAH) on the health and well-being of children and young persons (CYP). We
IQAC-CSIC, Jordi Girona 18–26, Barcelona, Spain aimed to establish the health status of CYP with CAH across the United Kingdom.
Methods
We conducted a national multi-centre prospective study recruiting 107 patients
Background aged 8–18 with 21-hydroxylase deficiency from 14 centres and 83 matched
SGPL1 carries out the final degradative step of the sphingolipid pathway, controls. Demographic, clinical, metabolic data, as well as Strengths and
irreversible cleavage of sphingosine-1-phopshate. SGPL1 deficiency is associated Difficulties (SDQ) and Paediatric Quality of Life (PedsQL) questionnaires were
with a pathological accumulation of sphingolipid species and a multi-systemic collected and analysed.
condition incorporating primary adrenal insufficiency (PAI). Sphingolipid Results
intermediates, ceramide and sphingosine are postulated to act as modulators of Most CAH patients were of White (73.8%) or Southeast Asian (18.6%) ethnicity.
the steroidogenic pathway, acting as second messengers altering downstream Glucocorticoid treatment consisted primarily of hydrocortisone (94.3%), with
expression of steroid responsive transcriptional elements. Ceramide, sphingo- 76.6% patients also receiving fludrocortisone. 34.3% patients required admission
myelin and sphingosine are reported inhibitors of steroidogenesis. Pathological for adrenal crisis after diagnosis. Delta-SDS for target height was 1.2G1.4 for
accumulation of these sphingolipid species in SGPL1 deficiency may therefore patients younger than 12 years and 0.3G1.6 for 12- to 18-year-olds; patients under
have negative implications for the steroidogenic cascade. 12 years were taller (PZ0.02) and patients aged 12–18 years shorter (PZ0.03) than
Objective and hypotheses controls. Patient weight-SDS (0.87; 0.03–1.35) and body-mass-index-SDS (0.98;
Investigating the impact of SGPL1 deficiency on sphingolipid profile and K0.04 to 1.94) were significantly higher compared to controls; 27.7% of patients
steroidogenesis using patient derived dermal fibroblasts and RNA-seq interrog- were overweight and 22.8% obese. Five patients had high blood pressure. Post-
ation of the differential expression of steroidogenic genes in an SGPL1-KD glucocorticoid dose androstenedione was normal in 32%, suppressed in 7%, and
adrenocortical cell line (H295R). elevated in 50% of patients; 17-hydroxyprogesterone was within target range in
Methods 20%, suppressed in 19%, and increased in 43% of patients. Biochemistry indicated
(1) Primary cultures of dermal fibroblasts were established from skin biopsies of normal sodium in all patients, low potassium in 1 patient, normal glucose in all,
two patients with SGPL1 mutations (Patient1 – p.F545del; Patient 2 – mildly raised creatinine in 9.8%, high lipids in 9.8% patients. Associated
p.S65Rfs*6G) and PAI. The steroidogenic capacity of fibroblasts was explored behavioural and mental health problems were reported for 11.3% patients aged
using a precursor substrate, progesterone, as a stimulator of cortisol production. 12–18 years, similar to the general population. SDQ questionnaires showed ‘high’
Culture media from treated/untreated cells were subjected to cortisol measure- or ‘very high’ scores for 15.1% patients, most commonly related to hyperactivity
ment (ELISA). (2) Mass spectrometric analysis of sphingolipid intermediates in and peer problems. The median with interquartile range for PedsQL scores was
control and patient fibroblasts 2. Lentiviral shRNA mediated KD of SGPL1 in 81(72–88), the areas marked lowest being emotional and school functioning.
H295R cell line with subsequent RNA-seq interrogation. Conclusion
Results Our findings suggest that children with CAH have increased prevalence of growth
Control fibroblasts showed a significant cortisol response after progesterone problems and metabolic co-morbidities, as well as reduced quality of life and
stimulation (P!0.001). In comparison Patient 1 fibroblasts were less responsive mental health well-being. The development of improved standardised strategies
(P!0.05) and Patient 2 cells unresponsive to stimulation (P!0.001). Mass for the management and monitoring of CAH in childhood is required in order to
spectrometry revealed significantly increased ceramide and sphingomyelin levels improve long-term patient outcomes.
in both patient cell lines compared to control (P!0.01). Differential gene
expression data from RNA-seq in the SGPL1-KD H295R cell line revealed

Oral Communications 5 Results

There were 37 term infants (27 males) with a raised TSH (>5 mU/l) and normal
OC5.1 FT4 level over the 5-year period. This represents 2.6% of the 1449 term infants
Project to develop BSPED UK standardised guidelines for sex hormone found to have HT. All infants with HT were born in good condition. Mean
priming and glucagon stimulation testing (GST) in children and gestation was 38.1 weeks (G2.1 S.D., range 33.1–42.0). 4 infants had Trisomy 21
adolescents and 3 infants had a maternal history of hypothyroidism. In 2 infants, we started
Christina Wei1, Pauline Musson2, Peter Clayton3, Mehul Dattani4,5, levothyroxine treatment due to rising TSH and falling FT4 levels. 9% of infants
Tabitha Randell6 & Elizabeth C Crowne7 had TSH normalised to 5 mU/l in 4 weeks without treatment, 54% normalised
1
St George’s University Hospital NHS Foundation Trust, London, UK; their TSH in 8 weeks, 83% normalised in 3–6 months, 94% normalised in 12
2
University Hospital Southampton NHS Foundation Trust, Southampton, months and 1 patient had persistent TSH >5 mU/l which did not require treatment
UK; 3University of Manchester, Manchester, UK; 4Great Ormond Street at 24 months.
Hospital for Children, NHS Foundation Trust, London, UK; 5University Conclusions
College London Hospitals, NHS Foundation Trust, London, UK; In 95% of all the cases of HT in well term infants, the natural course was that the
6
Nottingham Children’s Hospital, Nottingham University Hospital NHS TSH resolved to normal ! 5 mU/l by 2 years of age. In 3% of cases, TSH
Trust, Nottingham, UK; 7Bristol Royal Hospital for Children, University remained elevated (> 5 mU/l) at 2 years but FT4 levels were normal and in the
Hospitals Bristol NHS Foundation Trust, Bristol, UK upper quartile range (>15 pmol/l) without treatment. We recommend TFTs
monitoring due to the risk of decompensation although the risk of decompensa-
tion is low; and frequency of monitoring can be reduced after 2 years.
Background
The GST is commonly used in children and adolescents for the diagnosis of DOI: 10.1530/endoabs.66.OC5.2
growth hormone (GH) deficiency. Evidence supports the use of sex steroid
priming to improve diagnostic accuracy in GH provocation tests. This project,
undertaken on behalf of the BSPED Clinical Committee, aims to identify current
practice and develop consensus in sex hormone priming and GST protocols for
the development of standardised UK protocols.
Method
(1) Audit of sex hormone priming and GST protocols among UK tertiary
paediatric endocrine centres. (2) DELPHI consensus process over 8 weeks,
involving all UK paediatric endocrine specialists undertaking the GST. An
electronic survey, developed by a working group of 4 consultant paediatric
endocrinologists and approved by the BSPED clinical committee, was distributed OC5.3
via the BSPED newsletter. The survey consisted of 9 statements with 4 fixed Causes of central diabetes insipidus in children: a single-centre
responses and free text comments covering aspects of the criteria and preparation experience
used for sex hormone priming; the glucagon dose, hypoglycaemia risk and Ved Bhushan Arya1, Huseyin Anil Korkmaz1,2, Jennifer Kalitsi1, Ritika
presence of medical personnel for the GST. Consensus was considered achieved R Kapoor1 & Charles R Buchanan1
when 70% of respondents agreed with the statements. 1
King’s College Hospital NHS Foundation Trust, London, UK; 2Dr Behcet
Results Uz Children Disease and Surgery Training and Research Hospital, Izmir,
Audit: Priming was used in 20/22 centres with variations in patient criteria Turkey
(bone/chronological age or pubertal stage), drug preparation and dose. GST was
performed in 20/22 centres under 13 protocols with differences in glucagon doses
(0.15–0.1 mcg/kg, maximum 0.5–1 mcg), timing of samples and length of tests Background
(150–240 min), Delphi: 39 responses from 17 tertiary and 12 secondary centres Central diabetes insipidus (CDI) presents with various underlying diagnoses in
(26 tertiary paediatric endocrinologists,12 paediatricians with endocrine interest, children.
1 paediatric endocrine nurse). All statements reached consensus. Four statements Objective
for priming agreed (86–100%) informing a new guideline. Five statements for To determine causes of CDI and long-term outcome in children and adolescents
GST concerning glucagon dose and safety criteria agreed (89–100%) but with a from a Tertiary Paediatric Endocrinology unit providing Regional Paediatric
range of comments. Common themes from free texts included the definition of Neurosurgery and head trauma services.
hypoglycaemia (2.6–3.5 mmol/l), when a test can proceed or should be Methods
abandoned, and the immediate availability and skills needed for a doctor on the The clinic database was searched to identify patients with CDI managed between
unit supporting the nurse performing the test. 1993 and 2019. Relevant clinical information was collected from electronic
Conclusions patient records.
Consensus was reached for the use of sex steroid priming for GH testing and Results
safety precautions required for the GST. This information will inform the A total of 155 CDI patients, median age 6 years (range !1–18) were identified.
development of safe standardised BSPED national protocols. Principal CDI aetiologies were craniopharyngioma (nZ44, only 1 had CDI pre-
DOI: 10.1530/endoabs.66.OC5.1 surgery), midline CNS malformation (nZ20), post-neurosurgery (non-cranio-
pharyngioma; nZ18), germ cell tumor (GCT; nZ15), CNS infection (nZ14),
head trauma (nZ9) and Langerhans cell histiocytosis (nZ6). Miscellaneous
causes included raised intracranial pressure (nZ8), ventricular haemorrhage
(nZ8), pituitary apoplexy (nZ1) and IgG4 hypophysitis (nZ1). Threepatients
had familial disease. Eight patients currently have idiopathic disease. Of the 15
GCT patients with CDI, six presented with CDI and GCT concurrently and five
OC5.2 were diagnosed with GCT after median interval of 4 years (range 3–5) from CDI
presentation. Four patients developed CDI after tumour debulking/biopsy. An
Longitudinal outcomes of well, term infants who present with persistent additional seven GCT patients in our database did not develop CDI. Of the
hyperthyrotropinaemia seventeen patients with head trauma-/brain haemorrhage-associated CDI, seven
Sze May Ng, Tal Oryan, Nancy Katkat, Kayode Ayoede & Mahreen Aleem died before hospital discharge, four had transient CDI and 1 was lost to follow-up.
Southport and Ormskirk Hospital NHS Trust, Southport, UK Of the 20 midline CNS malformation patients, 12 had Septo-optic Dysplasia
(SOD). An additional 60 SOD patients in our cohort had hypopituitarism without
CDI. Of the 14 patients with CDI associated with CNS infection, two died during
Background
the initial illness, one had transient CDI and three were lost to follow up. A further
Neonatal hyperthyrotropinaemia (HT) is defined by elevated thyroid stimulating
seven patients from this subgroup died subsequently, one of which was due to
hormone (TSH) and normal free-thyroxine (FT4) level. Persistent HT in the
inappropriate management of CDI and one patient has persistent CDI.
neonatal period is often a diagnostic dilemma for clinicians to either treat to
Conclusion
prevent subclinical hypothyroidism or to wait and monitor thyroid function tests
In our Tertiary Paediatric Endocrine setting, the most common etiologies of CDI
(TFTs).
were craniopharyngioma, other intracranial tumors and malformations. Presen-
Methods
tation of craniopharyngioma with CDI in this series was very rare. 50% of GCTs
As part of an audit, 1449 term infants who had TFTs undertaken as part of a
had CDI as part of first manifestation symptomatology. CDI associated with CNS
prolonged jaundice screen from 2012–2017 were reviewed. Infants with HT
trauma, haemorrhage and infection carries very poor prognostic outcome.
(defined by TSH>5 mU/l) were followed up in clinic. We evaluated perinatal
factors and TFTs were monitored in 2–4 weeks, then regularly 2–4 monthly until DOI: 10.1530/endoabs.66.OC5.3
2 years of age or until HT resolved.

OC5.4 pre-treatment was 3.66(1.75–6.46)cm/year. With rhIGF-1, maximal HV occurred

Tolvaptan for hyponatraemia in infants with brain tumours within 3–6 months (7.55 cm/year), followed by gradual decline to 6.30 cm/year at
Jaya Sujatha Gopal-Kothandapani, Detlef Bockenhauer & Helen Spoudeas 1 year, 6.25 cm/year at 2 years, and 4.73 cm/year after 4 years. Hypoglycaemia
(nZ7, 63.63%) was the most frequent adverse effect, then adeno-tonsillar
Great Ormond Street Hospital, London, UK hypertrophy leading to OSA (nZ3), and cardiac left ventricular dysfunction
(nZ1). Hypoglycaemia, always pre-meal or fasting, occurred in the first 3 months
Background of treatment; the earliest after only one rhIGF-1 dose. In 5 cases, hypoglycaemia
Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) is a well- resolved by giving rhIGF-1 post meals. However, in one case, bedtime cornstarch,
recognized complication of intracranial tumours (ICT). Fluid restriction as and in another, overnight continuous feeds were needed to manage hypoglycae-
treatment for SIADH is challenging in infants since it is coupled with calorie mia. The 3 OSA cases were within 4–10 months of starting treatment. One patient
restriction. Moreover, it may conflict with chemotherapy-associated hyperhydra- developed left ventricular dysfunction after 2 years. There were no reports of skin
tion protocols. Existing evidence on the use of the type-2 vasopressin receptor reactions or raised intracranial pressure.
antagonist (Tolvaptan) for refractory SIADH in infants and young children is Conclusion
limited. rhIGF-1 therapy is a promising treatment for children with IGF-1 deficiency,
Objective resulting in increased HV. Hypoglycaemia is the most frequent side effect but can
To assess the efficacy and safety of Tolvaptan in managing infants with ICT be successfully managed with dietary interventions. Clinicians must be mindful of
associated SIADH. other potentially life-threatening complications (OSA, cardiac failure), the need
Methods for monitoring and joint decision making with families. Further follow-up should
Retrospective review of clinical data on patients diagnosed with ICT associated take place within international registries.
SIADH in infancy and treated with Tolvaptan at our quaternary centre (2012 and DOI: 10.1530/endoabs.66.OC5.5
2019).
Results
We identified 4 children (2 females; 2 males) matching the entry criteria and data
on clinical presentation, management and treatment outcome of SIADH. Three
patients (5, 5, 24 months) were diagnosed with suprasellar pilocytic astrocytoma
of whom one receiving chemotherapy at the time of SIADH. One diagnosed
antenatally with a large supra-and-infra tentorial teratoma was receiving
palliative care from 10 days of life. Severe and persistent hyponatremia (range
118–130 mmol/l) occurred in all within 4–8 days of neurosurgical biopsy (2),
shunt revision (1) or tumour debulking (1). All patients were euvolaemic, meeting
OC5.6
diagnostic criteria for SIADH with normal renal, adrenal and thyroid function. Monitoring and long-term disease activity in children with X-linked
Serum copeptin was elevated in 2 patients. All patients were refractory to initial hypophosphataemia on conventional therapy
fluid restriction. Salt supplementation in one patient resulted in hypertension. Suma Uday1,2, Nick Shaw1,2, Zulf Mughal3, Tabitha Randell4,
Tolvaptan was started 4 to 16 weeks after SIADH diagnosis, initially at 0.1 mg/kg Wolfgang Högler5,2, Rui Santos6 & Raja Padidela3
1
per day and titrated up to 1 mg/kg per day according to urine output and plasma Birmingham Women’s and Children’s Hospital, Birmingham, UK; 2IMSR,
sodium (P.Na). P.Na normalised and fluid intake was liberalised without side University of Birmingham, Birmingham, UK; 3Manchester Children’s
effects in all patients. In one patient SIADH resolved after 2 weeks of Tolvaptan Hospital, Manchester, UK; 4Nottingham Children’s Hospital, Nottingham,
(maximum dose 0.2 mg/kg per day), the others being switched to Urea [1– UK; 5Johannes Kepler University, Linz, Austria; 6Evelina London
1.5 g/kg per day, dose range 2–15 g BD] for cost-effectiveness after > 1 week. Children’s Hospital, London, UK
Conclusion
Tolvaptan is a safe and effective therapeutic option in children with intracranial
Background
tumours and SIADH to optimise calorie intake and facilitate intravenous
Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves
hydration during chemotherapy. Close twice daily monitoring of P.Na and urine
administration of oral phosphate and vitamin D analogues. Newer therapies such
output to inform safe dose titration during Tolvaptan therapy is imperative.
as Anti Fibroblast Growth Factor 23 antibodies (burosumab) have now become
DOI: 10.1530/endoabs.66.OC5.4 available. An important treatment goal is to heal rickets; assessed by
normalisation of serum alkaline phosphatase (ALP) levels and resolution of
radiological signs of rickets.
Objectives
(1) Assess disease severity on wrist and knee radiographs as determined by rickets
severity scores (RSS) and Thacher scores on conventional therapy. (2) Determine
the usefulness of serum ALP in assessing rickets severity on radiographs
Methods
Data was collected, retrospectively from case notes and electronic database, as
OC5.5 part of National Institute for Heath and Care Excellence review of burosumab.
Patients from 3 UK tertiary centres, with a confirmed diagnosis of XLH (PHEX
Recombinant human Insulin-like growth factor-1 (rhIGF-1) therapy: mutation in the patient or family member) and R 3 radiographs were included.
a 15-year experience in a tertiary care centre Radiographs were scored for RSS and Thacher scores by a consultant in metabolic
Sommayya Aftab, Philippa Prentice, Harshini Katugampola & bone disease (RP) and radiologist (RS). Due to different assays used for ALP
Mehul Dattani measurements, ALP z scores were calculated using age- and sex-specific
Great Ormond Street Hospital, London, UK mean/standard deviation (S.D.) CALIPER reference data. Spearman’s correlation
was used to determine the relation between ALP z scores and Knee RSS and
Background Thacher scores.
Recombinant human Insulin-like growth factor-1 (rhIGF-1) is the only treatment Results
for short stature due to primary IGF-1 deficiency and related disorders. However, Forty (maleZ12) patients with a median age of 9.3 years (range 0.8–18.9) were
treatment needs meticulous monitoring for adverse effects, especially hypogly- identified. Median age at diagnosis was 1.17 years (range 0.2–11.7). The majority
cemia, obstructive sleep apnoea (OSA), raised intracranial hypertension, cardiac (48%, nZ19) were diagnosed in infancy. The median follow-up duration was 7.2
complications and skin reactions. years (range 0.6–18.7). The meanGS.D. knee RSS and Thacher score at baseline
Method were 1.9G1.2 (nZ19) and 3.3G1.3 (nZ8) respectively and at most recent follow
To determine therapeutic potential, efficacy and safety of rhIGF-1 treatment, case up visit were 1.6G1.0 (nZ26) and 2.4 G1.6 (nZ6). The meanGS.D. ALP z score
notes were reviewed for all patients treated in a tertiary care centre. Diagnosis, at diagnosis and most recent visit were 4.2G2.9 (nZ36) and 4.1G2.7 (nZ34).
rhIGF-1 doses, height velocities (HV) and adverse effects were documented. There was no significant correlation between ALP z score and knee RSS (rZ
Results 0.17) or wrist RSS (rZ0.32) or Thacher scores (rZ 0.14).
11 patients (8 male) received rhIGF-1 over 15 years. Underlying diagnoses Conclusions
included: Laron syndrome (nZ3); GH insensitivity due to signaling defects (1) Conventional therapy was not effective in significantly improving biochemical
(nZ3) or unknown aetiology (nZ3); GH gene deletion with GH antibodies and radiological features of disease.
(nZ1); syndrome with complex panhypopituitarism unresponsive to GH therapy (2) Lack of association of serum ALP with RSS limits its value as the sole
(nZ1). Median presentation was 2.23(1.57–13.97) years. Starting rhIGF-1 dose indicator of rickets activity.
was 73–80 (g/kg/day at 5.14(2–22.6) years. In 10 patients, HV increased; the DOI: 10.1530/endoabs.66.OC5.6
syndromic child with panhypopituitarism was unresponsive to rhIGF-1. Mean HV

OC5.7 Results
Longitudinal changes in external masculinisation scores in boys born Twenty-two infants were identified in a one year period (55% male, 45% female),
with XY disorders of sex development a significant reduction compared to the original audit (nZ57). TRAb results were
Loubna Kraria1, Malika Alimussina2 & S Faisal Ahmed3 available on 11/23 (48%) patients, of which six were below 1 IU/l; results did not
1 change the stratification in three infants, increased it in four patients and
University of Glasgow, Glasgow, UK; 2Developmental Endocrinology decreased it in another four. The median (IQR) length of stay reduced from 4 (4–
Research Group, School of Medicine, Dentistry & Nursing, University of 5) to 2 (1–4) days (P!0.001). Two patients were incorrectly treated as low risk
Glasgow, Royal Hospital for Children, Glasgow, UK; 3Developmental (primip without TRAb results) and one was incorrectly treated as high risk
Endocrinology Research Group, School of Medicine, Dentistry & Nursing, (unaffected sibling without TRAb results). No infants were symptomatic or
University of Glasgow, Royal Hospital for Children, Glasgow, UK required treatment.
Conclusions
Introduction Awareness of the option of early discharge has reduced the median length of stay
Although a number of studies have reported on the External Masculinisation despite risk category being raised in as many patients as it was lowered. Less than
Score (EMS) and have validated its use for numerical descriptions of the external half of women had TRAb levels checked, especially where impression in
genitalia, the methodology in these studies has not considered longitudinal antenatal endocrine was of non-Graves thyrotoxicosis. The reduction in the
changes in EMS. number of infants suggests the current method of identifying patients may need
Objectives revising.
To examine longitudinal changes in EMS in boys with XY Disorders of Sex DOI: 10.1530/endoabs.66.OC5.8
Development (DSD) and determine the causes of these changes.
Methods
All boys of confirmed or presumed karyotype 46,XY who were reviewed at the
DSD clinic at the Royal Hospital for Children in Glasgow from 2010 to 2018 were
included. Patients on the I-DSD Registry and those who underwent an hCG
stimulation test were also included. The information required to calculate the first
and latest scores was obtained from medical records. Surgical interventions (SI) –
orchidopexies, orchidectomies, hypospadias repairs, and biopsies – as well as
therapeutic interventions (TI) – testosterone therapy – were recorded. Total EMS
was calculated at first assessment (EMS1) and at the latest assessment (EMS2).
This calculation was done in duplicate by two independent authors. Any
OC5.9
discrepancies found were discussed and resolved. Rare causes of primary adrenal insufficiency (PAI) in children from
Results Sudan
In total, 143 boys were identified, with a median age of 0.93 years (range 0.00– Younus Qamar1,2, Avinaash Maharaj2, Li Chan2, S AbdulBagi3,
16.93 years) and 4.58 years (range 0.45–19.05 years) at EMS1 and EMS2, M Abdullah3 & Louise Metherell2
1
respectively. Median interval time between EMS1 and EMS2 was 3.26 years Barts and The London School of Medicine and Dentistry, Queen Mary
(range 0.27–15.48 years). Median EMS out of 12 was calculated as 9.0 (range University London, London, UK; 2Centre for Endocrinology, William
1.5–12.0) and 11 (range 3–12) at first and latest assessment, respectively Harvey Research Institute, Queen Mary University of London, London, UK;
3
(P!0.0001). Median change in EMS was 2 (range 9–11). Of the 143 boys, 121 Department of Paediatric Endocrinology, Faculty of Medicine, University
had solely SI, one had solely TI, five boys had both SI and TI, and 16 boys had no of Khartoum, Khartoum, Sudan
intervention. In boys who had SI (nZ121), 120 showed changes in their EMS.
In boys who had TI (nZ6), two showed changes in EMS, but this could also be
Background
attributed to their SI. There was no significant change in EMS in boys who had TI
Primary adrenal insufficiency (PAI) is a rare, genetically heterogenous condition,
and no SI.
characterised by hypocortisolaemia and high plasma ACTH levels in the presence
Conclusion
or absence of mineralocorticoid deficiency. PAI can be life-threatening if
EMS increases over childhood and adolescence, and the main determinant of this
unrecognised, misdiagnosed or under/untreated. Familial glucocorticoid defici-
increase is surgical intervention. Testosterone therapy is not a cause of EMS
ency (FGD) is a rare autosomal recessive form of PAI characterised by isolated
changes, but more research needs to be undertaken in a larger patient cohort.
glucocorticoid insufficiency. Mutations in the MC2R/ACTH receptor, MRAP,
DOI: 10.1530/endoabs.66.OC5.7 STAR and CYP11A1 account for >50% of cases of FGD. No previous studies have
characterised PAI in the Sudanese paediatric population.
Aims
(1) To describe the clinical presentation of PAI in a small cohort of Sudanese
paediatric patients, and (2) to identify monogenic causes of PAI.
Methods
Sanger sequencing was undertaken for variants of candidate genes: MC2R,
MRAP, STAR, CYP11A1 and, in one patient with clinical features of autoimmune
polyglandular syndrome (APS) type-1, AIRE. Whole exome sequencing (WES)
OC5.8 was performed for patients who were mutation negative on candidate gene
TSH-Receptor testing in pregnancy allows stratification of risk of sequencing.
neonatal thyrotoxicosis and promotes earlier discharge Results
James Law, Hemma Chauhan & Anneli Wynn-Davies Fourteen patients from 13 families (7M; 7F, aged 0–7.5 yrs at presentation) with
PAI of unknown aetiology were studied. The most frequent presenting clinical
Nottingham University Hospitals NHS Trust, Nottingham, UK features were generalised hyperpigmentation (100%), fatigability (50%) and
infection (43%). 29% of the patients experienced recurrent hypoglycaemia.
Background Diagnosis was established biochemically with a low serum cortisol and high
Local guidelines for infants born to mothers with a history of thyrotoxicosis plasma ACTH. A genetic diagnosis was obtained in 2/14 patients by candidate
previously recommended that infants were observed in hospital until thyroid gene approach. A homozygous missense mutation in MC2R (c.437G>A,
function tests were checked on day 4, with follow up on day 10, causing p.R146H) previously reported to cause FGD and a homozygous nonsense
inconvenience to families and unnecessary cost to services. Following a literature mutation in AIRE (c.769C>T, p.R257X) linked to APS type-1. WES in a third
search, our revised local guidelines recommend low-risk infants can be patient revealed a novel homozygous nonsense mutation in NNT (c.69T>A,
discharged on day 0 without follow up, stratified using maternal TSH-receptor p.C23X). 11/14 PAI patients remain genetically unsolved and have been sent for
antibody (TRAb) levels in pregnancy and whether siblings have been affected. WES.
A re-audit was undertaken to assess the effect of the new guideline. Conclusion
Method Determining the aetiology of PAI can be challenging, owing to phenotypic
Infants were identified from the list of mothers who had thyroid disease noted in heterogeneity. A genetic diagnosis can help guide management as well as provide
their maternity records, excluding those who had never been hyperthyroid. vital prognostic information. Candidate gene approaches are still helpful and here
Removal of routine day 4 thyroid function tests in the new guideline prevented the solved 2/14 PAI children. However, with reducing costs, WES may by-pass
previous method of identification. Health records of infants and mothers were candidate gene approaches and be the first line to solving the genetic cause of
reviewed to establish maternal thyroid history, maternal TRAb levels in PAI.
pregnancy, length of stay, clinic follow up, thyroid function testing and DOI: 10.1530/endoabs.66.OC5.9
symptomatic thyrotoxicosis in the infant.

OC5.10 Background
Review of neonatal cortisol evaluation between 2012–2018 in a single The incidence of type 2 diabetes in childhood in the UK is increasing. It is often
centre: trends, outcomes and associations an aggressive disease associated with poor health outcomes. Despite this, there is
Taffy Makaya1, Satish Sarvasiddhi1, Elizabeth van Boxel1, Smrithi Menon2 little formal training and evidence based guidance.
& Brian Shine2 Objectives and method
1
Oxford Children’s Hospital, Oxford, UK; 2John Radcliffe Hospital, Oxford, A questionnaire was sent to each paediatric diabetes unit in England and Wales,
UK evaluating variation in practice, training and confidence in the management of
type 2 diabetes.
Results
Background † 83 out of 173 units responded, including tertiary centers and district general
Neonatal cortisol assessment is indicated in suspected adrenal insufficiency. hospitals and incorporating different professionals within the multidisciplinary
Aims/objectives team.
Review of neonatal cortisol assessment within our Trust over seven years, to † Most centers – 62%, provided care for relatively few (between 0 and 4) patients
analyse trends, indications, outcomes; and relationships between gestational age with type 2 diabetes.
(GA), birth weight (BW) and cortisol assessment. † There was a wide variation on service and care provision between centres. For
Methodology example the guidelines being used, with 18% were uncertain if they were
From cortisol results on neonates (%30 days age) between 2012–2018 (inclusive) following guidelines or not. A minority were offering a structured education
we identified random/serial (‘screening cortisols’) versus cortisols done as part of program. 8% offered separate clinics for Type 2 diabetes and 30% had access to
Synathen tests. We analysed trends for testing. Further data collection was as healthy eating and exercise programs.
follows: † 70% did not have formal training in managing type 2 diabetes and 76% felt
† screening cortisols: Indication, number of tests, outcomes. under-confident in managing the condition.
† Synacthen tests: Indication, type of test [short Synacthen test (SST) vs low dose † 60%, rated their service’s impact on quality of life and health of patients as a
Synacthen test (LDST)], results, short/long term outcomes, relationship to small positive or none at all.
BW/GA. † One in five units said their team had
Results – no formal training,
There were 412 cortisol tests over the 7 years, in 172 patients. Numbers were – low confidence,
stable between 2012 and 2014, but between 2015/2016 and 2017/2018 there was a – little or no support from adult services.
230% increase in cortisol; and 430% rise in Syacnthen tests. This was despite Respondents requested:
stable admission rates: 1997 patients over 2015/2016 and 1916 in 2017/2018. † Further education and training. Popular suggestions were:
Further results: Table 1. † Network events, a national training program and team training events.
† Evidence based national guidelines.
Table 1 Screening cortisol versus Synacthen tests. Conclusions
The majority of children with type 2 diabetes are cared for in centers that have
Screening cortisols Synacthen tests small patient numbers highlighting the need for sharing good practice, training
and guidelines. There is wide variation in the services offered to children with
Number of patients 143 (Z83%) 29 (Z17%) type 2 diabetes across England and Wales with the most units having no formal
Split 66.4% (nZ95/143): single 72.4% (nZ21/29) were SSTs training. Consequently the majority of respondents rated their confidence as low.
screening cortisol test This survey highlights the need for standardisation of care and service provision
33.6% (nZ48/143): 27.6% (nZ8/29) were LDSTs with nationally accredited guidelines training program in order to help improve
3
2 screening cortisol tests outcomes.
Top 3 Hypoglycaemia(35.6%), Hypoglycaemia(44.8%), DOI: 10.1530/endoabs.66.OC6.1
indications: ambiguous genitalia(16%), ambiguous genitalia(6.9%)
conjugated jaundice(9%) and hyponatremia(6.9%)
Outcomes: Only ONE patient was started 38% of the initial Synacthen
on treatment based on just tests were abnormal
screening results. (nZ11/29).
Subsequent SST confirmed Of these only 36% (nZ4/11)
adrenal insufficiency. remained on treatment after
age of 2 years:
DxZ2x Hypopitutarism C 1x
Hypoglycaemia, SGA and
maternal pre-eclampsia C1 OC6.2
Preterm (repeat An exploration of the perceptions and lived experience of primary
SST pending). school aged children using insulin pump therapy
Caroline Spence
Hampshire Hospitals NHS Trust, Winchester, UK
There was no significant relationship between premature versus term deliveries
and abnormal Synacthen tests (PZ0.32); or between BW (i.e. SGA vs AGA) and
abnormal Synacthen tests (PZ0.67). Background
Summary/conclusions In the UK, the use of insulin pump therapy in children with Type 1 diabetes is
Despite an exponential increase in cortisol assessments, 91% of testing increasing. Many studies have investigated the effectiveness of this treatment in
indications were appropriate. Initial pick-up of adrenal insufficiency was low improving biomedical outcomes and quality of life measures. However, few
(6%). Subsequent reassessment of adrenal function is imperative as 64% of these studies have explored the perspectives of children themselves on their use of
results were transient. There were no associations between BW or GA and pump therapy, particularly in the pre-adolescent age group. This study focussed
abnormal Syancthen results. on primary school aged children and aimed to explore in depth how they
experienced insulin pump therapy in the context of their everyday lives.
DOI: 10.1530/endoabs.66.OC5.10 Methods
This was a qualitative study using a hermeneutic phenomenological research
design. Fifteen children were recruited from two paediatric diabetes clinics in
England. Each child participated in a single semi-structured interview conducted
in the home setting. Data was used analysed for themes to describe their
experiences.
Oral Communications 6 Results
Diverse and sometimes contradictory experiences were highlighted, demonstrat-
OC6.1 ing that children were both helped and hindered by their treatment. Although
A survey into the care of children with type 2 diabetes in England and young, they were actively involved in the management of their own condition not
Wales only operating the technology themselves, but also in managing their identities
Philip Reilly1, Nisha Pargass2 & Alexandra Childs3 and adjusting to their treatment. Despite the considerable effort that this involved
1
Torbay Hospital, Torquay, UK; 2Royal Wolverhampton Hospital, and the negative experiences they described, all but two of the children were
Wolverhampton, UK; 3Royal Devon and Exeter Hospital, Exeter, UK enthusiastic about pump therapy and viewed it favourably. Six key themes were

used to illustrate these findings: Disrupted bodies / Disrupted lives; Transformed OC6.4
bodies / Enhanced lives; Shaping identities – feeling different and the same; Exam preparedness in students with type 1 diabetes and their
Empowering / Disempowering; ‘Getting used to it’ and Feeling supported / Being schools – a quality improvement study
unsupported. Hannah Yard1, Corrina Bretland2,3 & Ambika Shetty1,2,3
Conclusions 1
The findings offer clinicians the opportunity to gain a deeper understanding of School of Medcine, University of Cardiff, Cardiff, UK; 2Cardiff and the
what it might be like for a young child to use insulin pump therapy every day. This Vale Paediatric Diabetes Team, Cardiff, UK; 3Noah’s Ark Children
in turn, may help to ensure that the delivery of care and support to these children is Hospital, University Hospital Wales, Cardiff, UK
responsive and relevant to their particular needs.
DOI: 10.1530/endoabs.66.OC6.2 Introduction
Type 1 diabetes (T1D) is a lifelong condition affecting over 29 000 children in the
United Kingdom, the majority of whom are in full time education. Both
hypoglycaemia and hyperglycaemia have been shown to impact the young
person’s overall school performance and learning capacity. During exams,
children and young people (CYP) with T1D have the additional stress of
managing their diabetes appropriately, and therefore require special provisions.
Currently, the reference for schools for special arrangements in exams is the
‘Access Arrangements and Reasonable Adjustments’ document. However, this
105-page document only mentions the word ‘diabetes’ once. The Diabetes UK
leaflet, ‘Type 1 Diabetes and School Exams’, is a valuable resource.
Aim
OC6.3 To analyse how prepared schools, exam boards, and CYP with T1D are in dealing
Here’s the POInT: a multicentre European Primary Oral Insulin Trial with diabetes during school exams.
Owen Bendor-Samuel1, Tabitha Wishlade2, Manu Vatish2, Methods
Anette-Gabriele Ziegler3,4,5, Ezio Bonifacio6, John A Todd7, We distributed anonymised questionnaires to participants in the Cardiff and Vale
Matthew Snape1,8 & GPPAD Study Group9 area, including students with T1D in school years 10, 11 and 12, their families,
1
Oxford Vaccine Group, Department of Paediatrics, University of Oxford, schools, and exams officers.
Oxford, UK; 2Nuffield Department of Women’s & Reproductive Health, Results
University of Oxford, Oxford, UK; 3Institute of Diabetes Research, Almost all parents reported that their child’s diabetes affected their exam
Helmholtz Zentrum München, German Research Center for Environmental performance a moderate amount or less, whereas nearly half the students said
Health, Munich, Germany; 4Forschergruppe Diabetes e.V. at Helmholtz their diabetes significantly affected them during exams. Over 90% of students said
Zentrum München, German Research Center for Environmental Health, their blood glucose levels were more difficult to manage during revision and
Munich, Germany; 5Forschergruppe Diabetes, Technical University exams, whereas only 60% of parents agreed with this. Whilst 70% of parents had
Munich, at Klinikum rechts der Isar, Munich, Germany; 6Center for discussed exam arrangements with school, less than half the students were
Regenerative Therapies Dresden, Faculty of Medicine, Technische involved in these discussions. 50% of school staff had contacted the diabetes team
Universität Dresden, Dresden, Germany; 7Wellcome Centre for Human during exam periods, whereas none of the exams officers had. 45% of the students
Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, had read the Diabetes UK leaflet, in contrast with just one of the school staff and
UK; 8NIHR Oxford Biomedical Research Centre, Oxford, UK; 9Helmholtz one exams officer.
Zentrum München, Munich, UK Conclusion
Our study clearly highlights that CYP with diabetes are not receiving the special
provisions they require to achieve their full potential during exams. The diabetes
Introduction teams, students, families, schools and exam boards need to work together to
The successful prevention of type 1 diabetes (T1D) is a major clinical goal. The ensure that all parties involved feel more prepared. We have highlighted areas for
pathogenesis is multifactorial, with genetic and environmental influences that improvement in order to create a resource for schools to help support CYP with
lead to a break in immune tolerance toward pancreatic beta cells. Through a T1D sitting exams.
number of prospective cohort studies, it is now understood that the presence of
two or more diabetes-associated autoantibodies is highly predictive of future T1D DOI: 10.1530/endoabs.66.OC6.4
diagnosis. In addition to the genetic rationale (insulin gene sequence variations
increasing T1D risk four fold), insulin autoantibodies, often appearing first within
9 months after birth, indicate that the loss of tolerance to insulin is an important
step in the progression of T1D and therefore if prevented, T1D could be delayed
or avoided.
Aim
As part of the Global Platform for the Prevention of Autoimmune Diabetes
(GPPAD), the aim of POInT (Primary Oral Insulin Trial) is to conduct a T1D OC6.5
primary prevention, double-blind randomised controlled trial, aiming to induce Factors affecting the practice of routinely downloading blood glucose
tolerance towards insulin by administering oral insulin. data at home for families and children with type 1 diabetes
Design Sze May Ng, Marisa Clemente, Perveen Sultana & Louise Apperley
Through the INGR1D study (Investigating Genetic Risk for T1D) babies are
Southport and Ormskirk Hospital NHS Trust, Southport, UK
genetically screened for a 1:10 chance of developing multiple autoantibodies
(against a background risk of 1:250). Between 4 and 7 months of age, participants
with an increased risk of T1D can enrol to POInT and are subsequently Background
randomised 1:1 to receive either daily placebo or oral insulin until their 3rd In type 1 diabetes (T1D), optimal glycaemic control requires intensive self-
birthday. Follow-ups are mostly at 6-monthly intervals thereafter, with a management to reduce the risk of complications. While routine downloading and
maximum 7-year follow-up. There are currently seven study centres across five review of blood glucose data is part of clinical practice of healthcare providers in
European countries recruiting to INGR1D and POInT, with the aim to screen an outpatient setting, patients and families are also educated, advised and
300 000 newborns over 3.5 years, leading to randomisation of 1,040 children into encouraged to regularly download and review blood glucose data at home in order
the trial. to make adjustments to insulin dosing for carbohydrate intake and insulin
Analysis sensitivity factors. In this study, we describe the characteristics between two
At every visit, participants are tested for the presence of autoantibodies against groups of patients with T1D who routinely download and review their blood
insulin, GAD65, IA-2 and ZnT8. The primary outcome is the development of glucose data at home compared with a cohort that do not download data at home.
multiple autoantibodies or diabetes. Secondary outcomes include single Methods
autoantibodies or an abnormal glucose tolerance test. The POInT accrual Patients and their families were considered a ‘routine downloaders’ (RD) if their
objective of 1040 children provides 80% power to detect a 50% reduction in the blood glucose device data was downloaded and reviewed at home at least once a
incidence of beta-cell autoantibodies by age 6 years. month between routine clinic visits which was scheduled every three months.
Accruals to date ‘Non-downloaders’ (ND) were defined by those who did not download or review
Between October 2017 and June 2019, over 95 000 and 290 participants have data at home at least once a month, despite being educated on the use of free
enrolled to INGR1D and POInT respectively. software and encouraged by healthcare professionals to download regularly. We
DOI: 10.1530/endoabs.66.OC6.3 evaluated demographics, age, duration of diagnosis, socioeconomic deprivation
scores, quality of life scores and mean Hb1A1c between RD and ND patients.

Results Introduction
98 patients were included in the study (52 males) with a mean age at diagnosis of Many children with Type 1 Diabetes (T1D) and their parents/carers anecdotally
7.4 years (S.D.G3.8, range 1.1–15.0), mean diabetes duration of 5.2 years (S.D.G report poor sleep quality. This is particularly problematic in patients experiencing
0.36). The patients’ characteristics are reported with 33 in the RD group and 65 frequent hypoglycaemia despite intensive blood glucose monitoring (BGM).
patients in the ND group. Mean HbA1c (mmol/mol) in the preceding 12 months Continuous glucose monitoring (CGM) overcomes some of the burdens of BGM
was significantly better in the RD group (60 vs 66, PZ0.03). The ND group had and can reduce overnight hypoglycaemia.
significantly poorer overall deprivations scores, poorer employment and Objectives
education levels (P!0.05). Multivariable regression analysis examining the This pilot study explored the impact of CGM on sleep quality in children and
factors affecting families downloading found that overall deprivation was the only adolescents with T1D experiencing labile glycaemic control and frequent
independent determinant (PZ0.03). hypoglycaemia. Impact of CGM use on parental sleep quality was also
Conclusions investigated.
This study shows that social deprivation is an important determinant towards the Methods
practice of routinely downloading data at home for families with T1D. Healthcare Actigraphy was used to measure sleep quality in children and adolescents aged
professionals should target deprived areas with further support, education and 2–-18 with T1D (nZ10) and their parent(s) (nZ18). Sleep quality was measured
resources for management of T1D. one week prior to the patient starting CGM and during week 5 of CGM use.
DOI: 10.1530/endoabs.66.OC6.5 Additionally, all participants recorded a sleep diary during each sleep monitoring
week.
Results
Sleep efficiency improved by 7.03% in children and adolescents (95% CI 3.09 to
10.99; P Z 0.003), and 4.14% in parents (2.21 to 6.06; P ! 0.001). This was
accompanied by a significant reduction in nocturnal wakening. In children and
adolescents, mean reduction in nocturnal wakening was 42.5 minutes (K66.5 to
Oral Communications 7 K18.4; P Z 0.003), and in parents, 18.5 min (K28.6 to K8.4; P ! 0.001).
OC7.1 Conclusions
Increased and younger alcohol-related hospital admissions in young This was the first study that objectively explored sleep quality in both children
people with childhood-onset type-1 diabetes: a record-linked and adolescents with T1D, and their parents, before and during the use of CGM.
longitudinal population study in Wales The improvements in sleep efficiency and nocturnal wakening may be clinically
Andrea Gartner1, Rhian Daniel1, Daniel Farewell2, Shantini Paranjothy1, significant for both patients and parents with regards to functioning, quality of life
Julia Townson1 & John Gregory1 and neurocognition. Reasons for improved sleep quality may include reduced
1 overnight disturbance from BGM, reduced hypoglycaemia and reduced anxiety
Cardiff University, Cardiff, UK; 2Cardiff University, Cardiff, UAE related to hypoglycaemia. These factors may directly and indirectly impact upon
an individual’s T1D self-management and consequently, may affect a patient’s
Background glycaemic control. This area warrants further research.
Children and young people with type-1 diabetes (T1D) have excess all-cause DOI: 10.1530/endoabs.66.OC7.2
hospital admissions, particularly younger children with lower socioeconomic
status. Education on managing alcohol is provided to teenagers with T1D in
paediatric clinics, but its effectiveness is unknown. We compared the risk of
alcohol-related hospital admissions (ARHA) in young people with childhood-
onset T1D with the general population for the same birth years.
Methods
We extracted data for 1 791 577 individuals born 1979–2014 with a GP
registration in Wales, and record-linked these to ARHA between 1998 and June OC7.3
2016 within the Secure Anonymised Information Linkage Databank (SAIL).
Diabetes status was ascertained by record-linkage to a national register (Brecon Improving HbA1c outcomes in young people of transition age with type
Cohort), containing 3 575 children diagnosed with T1D aged !15 years since 1 diabetes using quality improvement methodology
1995. Linkage to the Welsh Demographic Service dataset provided information Emma Dymond, Julie Cropper, Sarah Trentham, Aoife Kelleher,
on age, sex and the lower super output areas (LSOAs) of residence, including Rachel Boal, Faye Bishop & Fiona Campbell
moves, and linked Welsh Index of Multiple Deprivation 2008 quintiles. We Leeds Teaching Hospitals Trust, Leeds, UK
censored for death or leaving Wales. We estimated hazard ratios (HRs) with 95%
confidence intervals (95% CIs) for the risk of ARHA for sex, age and deprivation
group using recurrent-event models, including interaction terms. Introduction
Results Effective transition care is vital to empower young people (YP) to optimally self-
There were 37 905 admissions and 19.1 million person-years of follow up. manage their diabetes. National data highlights the concern regarding poorer care
Individuals with T1D had 248 admissions (up to 4 admissions each), and overall outcomes due to lower completion of annual care processes and higher rates of
had a 78% higher risk of ARHA (HR 1.78; 95% CI 1.60–1.98) adjusted for age DKA whilst transitioning to adult care. The Children and Young People’s
group, sex and deprivation. In diabetic individuals the risk of ARHA was highest Diabetes Team provides care for 170 YP aged 16–19 years. In April 2017, 19% of
in the 14–17 year-old age-group (HR 6.01; 95% CI 4.70–7.75), 2.7 times higher this age group had a HbA1c !58 mmol/mol, significantly lower than the total
than the peak in the general population aged 18–22 (HR 2.23, 95% CI 2.14–2.32), clinic population of 29%.
both relative to 11- to 13-year olds in the general population. Socioeconomic Aim
inequalities in ARHA were smaller for the T1D group. To increase the percentage of 16–19 year olds achieving a HbA1c of
Conclusions !58 mmol/mol by 10% each year commencing in September 2017.
Young people with T1D have increased risks of ARHA, highest at school age Method
(14–17 years) and earlier than the peak at student age (18–22 years) in the general All multi-disciplinary team members were trained in Quality Improvement (QI)
population. New effective interventions aiming to reduce alcohol-related harm in as part of a Trust wide Transition Transformation Programme. Process mapping
T1D are needed. These may include modification of current education and of the transition model of care for 16–19 year olds identified patient pathway
guidance for teenagers on managing alcohol consumption and reconsideration of improvements. The success of interventions was tested using ‘Plan Do Study Act’
criteria for hospital admission. (PDSA) cycles. Interventions included; monthly HbA1C tracking, recruitment to
structured education, employment of a Youth Worker, signposting to online
resources, parent support sessions and development of an age-adjusted annual
review proforma in conjunction with the Ready, Steady, Go programme for
individualised care.
Results
In April 2018, the goal of 10% improvement in one year was met by 9 months,
with 29% of YP achieving a HbA1c !58 mmol/mol. This transition
OC7.2 improvement work continued during participation in the RCPCH National
Impact of continuous glucose monitoring on sleep quality in children Diabetes QI programme from November 2018 to June 2019, and saw a further
with type 1 diabetes and their parents: a pilot study improvement to 37% achieving the aim.
Meera Parmar1, Nikki Davis2 & Catherine Hill1,2 Conclusion
1
University of Southampton, Southampton, UK; 2Southampton Children’s The success of the interventions were due to the whole team adopting and
Hospital, Southampton, UK implementing changes, despite the challenge of scheduling regular meetings to

suit all team members. Review and tracking of real-time data allowed timely OC7.5
feedback of intervention effectiveness reinforcing the value of all team members’ Medication adherence during adjunct therapy with statins and ACE
efforts. Support of YP from a Youth Worker improved service engagement inhibitors in adolescents with type 1 diabetes
especially with structured education. Effective transition care is vital to empower M Loredana Marcovecchio
YP to optimally manage their diabetes during this critical time. Further work is
planned to develop a fully integrated diabetes service for 19–25 year olds working University of Cambridge, Cambridge, UK
closely with our adult diabetes colleagues.
DOI: 10.1530/endoabs.66.OC7.3 Background
Suboptimal adherence to insulin treatment is a main issue in adolescents with type
1 diabetes (T1D). However, to date, there are no available data on adherence to
adjunct non-insulin medications in this population. The aims of this study were to
assess adherence to ACE inhibitors and statins and explore potential determinants
in adolescents with T1D in the context of a clinical trial.
Methods
443 adolescents (aged 10–16 years) were recruited into the Adolescent Type 1
Diabetes cardio-renal Intervention trial (AdDIT) and exposed to treatment with
two oral drugs: an ACE inhibitor, a statin, combinations of both or placebo for
2–4 years. Adherence was assessed every 3 months with the Medication Event
Monitoring System (MEMS) and pill count. The effect on adherence of baseline
age, diabetes duration, age at diagnosis, HbA1c, method of insulin administration,
country and sex were assessed.
OC7.4 Results
Monitoring lipid profiles in children and young people with type 1 Median adherence during the trial was 80.2% (interquartile range: 63.6–91.8),
diabetes mellitus: what should we do with these results? based on MEMS, and 85.7% (72.4–92.9) based on pill count. Adherence dropped
Julie Park, Tabitha Bowker, Atrayee Ghatak, Fulya Mehta, Mark Deakin from 92.9% at the first visit to 76.3% at the last visit. Adherence was lower in
& Princy Paul participants with an HbA1c >85 mmol/mol (69.4 [50.8–87.1]%) vs those with an
Alder Hey Children’s Hospital, Liverpool, UK HbA1c 58–85 mmol/mol (79.5 [63.3–91.0]%) and !58 mmol/mol (88.1 [75.5–
93.9]%), PZ0.001. Adherence varied across the three countries involved in the
AdDIT trial: Australia (83.4[70.1–92.9]%), UK (78.9 [61.7–91.6]%) and Canada
Introduction
(73.8[56.8–88.3]%), P for trendZ 0.001. There was also a trend for a decreasing
Evidence is currently limited regarding the management of abnormal lipid
adherence with age (PZ0.07).
profiles in children and young people (CYP) with Type 1 Diabetes Mellitus
Conclusions
(T1DM). ISPAD recommend monitoring every five years and statin use to
We report a good adherence rate with ACE inhibitors and statins in adolescents
maintain LDL cholesterol !3.4 mmol/L1. Guidance is specific to LDL. NICE
with T1D. Older age and higher HbA1c predicted adolescents with worse
guidelines do no recommend routine screening for CYP with T1DM.
adherence, highlighting two key potential targets for strategies aiming at
Methodology
improving adherence. Adherence also differed by countries likely reflecting
We reviewed all lipid profiles (including cholesterol, triglycerides, LDL and
differences in practice or approaches between countries. On behalf of the
HDL) performed in our population of CYP with T1DM over 12 months. We
Adolescent type 1 Diabetes cardio-renal Intervention Trial (AdDIT) study group.
recorded the results and management of these lipid profiles.
Results DOI: 10.1530/endoabs.66.OC7.5
351 patients had their lipid profiles checked as part of their annual review process.
108 patients had an abnormal profile. 47 patients had a high LDL (>2.85 mmol/l).
30 patients had their lipid profiles repeated when fasted. The results of these are
shown in Table 1.
Table 1: Table showing results of repeated fasting samples where LDL was
O3.3 mmol/l.
OC7.6
Improving referral pathways from primary to secondary care in newly
Number of patients diagnosed type 1 diabetes
Ambika Shetty1, Catrin Bucknall1, Maria Dyban2, Justin Warner1
Sample not repeated 13 & Jon Mathias3
LDL improved to within the normal range 5 1
Children’s Hospital for Wales, Cardiff, UK; 2Primary care, Cardiff & Vale
(!2.85 mmol/l) UHB, Cardiff, UK; 3CYPWDN, Cardiff, UK
LDL improved to !3.3 mmol/l but remained 5
O2.85 mmol/l
LDL remained O3.3 mmol/l 7 Introduction
LDL remained O4 1 Most children & young people (CYP) with symptoms of type 1 diabetes (T1D)
tend to present to primary care. Delayed diagnosis is common and is associated
with a risk of developing diabetic ketoacidosis (DKA). The prevalence of DKA at
diagnosis over the last 20 years remains unchanged despite current NICE
47 patients required additional dietetic and lifestyle interventions to further guidance and Diabetes Delivery Plans which promote prompt diagnosis of T1D.
tighten their diabetes control. 7 patients fit the criteria for consideration for statins. The aim of this QI initiative was to develop effective pathways to facilitate early
Conclusion diagnosis of T1D with the primary long-term objective of reducing the DKA
There is limited evidence regarding the use of statins in CYP with T1DM. 2% of incidence at diagnosis.
our population fit the criteria for consideration of statins whilst 14% have a raised Methods
LDL requiring more intensive management of their diabetes, diet and exercise. Key partners in primary and secondary care identified barriers faced by healthcare
Other parameter abnormalities, including raised triglycerides and cholesterol and professionals and developed QI initiatives to improve timely diagnosis. This
reduced HDL, are common affecting 31% of our population. There is even less included a simple referral pathway, feedback tools and sustained GP training in
evidence relating to the outcomes associated with these abnormalities. NICE early recognition of diabetes. Two annual audit cycles using retrospective case
suggest using a cardiovascular risk assessment in adults before performing lipid note analysis of all newly diagnosed CYP in Cardiff were completed. The first
profiles and treating with statins2. There is no guidance for CYP with T1DM. We cycle (2017) represented pre-change with the second cycle after adopting QI
suggest that further prospective studies are required to address these issues and changes in 2018. Key outcomes included blood glucose (BG) testing and prompt
further our knowledge of lipid abnormalities in CYP with T1DM. referral.
References Results
1. ISPAD guidelines, Microvascular and macrovascular complications in children Pre change: 22 CYP were newly diagnosed with T1D,19/22 presented to primary
and adolescents Donaghue et al. 2018. care; of the 19, 4 were in DKA, 10 had point of care(POC) BG testing and 2 had
2. NICE Cardiovascular disease: risk assessment and reduction, including lipid urine tests prior to referral. 3 had had fasting BG resulting in delayed referral. 3 of
modification (CG181) 2016. the 4 in DKA had delayed diagnosis. Post QI initiatives: 32 were newly
DOI: 10.1530/endoabs.66.OC7.4 diagnosed, 22/32 presented to primary care; of the 22, 6 were in DKA,17 had POC
BG test, and 3 had urine tests. Of the 6 in DKA, 5 were at first presentation to

primary care, had POC testing and were promptly referred. Post QI initiatives, gender, and duration of diabetes. The aim of this study is to examine the Body
91% had POC testing and prompt referral to secondary care, contrasted with 63% Mass Index (BMI) of children and young people with T1DM at the Children’s
pre change. Hospital for Wales and explore co-factors that may contribute to risk.
Conclusion Methods
Although there was no reduction in overall DKA rates at diagnosis of T1D, we A retrospective review of all patients with T1DM attending the Children’s
have demonstrated a clear improvement in prompt diagnosis following QI hospital for Wales from May 2016 to May 2019 was undertaken. Age and gender
initiatives between primary and secondary care. This QI programme is now being adjusted BMI (weight[kg]/height2[metres]) centile for the latest recorded visit
tested across other parts of Wales with a long-term plan to promote early was compared to HbA1c, insulin regimen, total daily insulin dose, duration of
diagnosis and reduce the incidence of DKA. diabetes, and deprivation index.
DOI: 10.1530/endoabs.66.OC7.6 Results
Overall BMI centile of children with T1DM in this population was high at 69
(95% CI 65–71). BMI centile was associated with daily insulin dose (rZ0.24,
PZ0.01). On average those using pumps had a higher BMI centile and lower
HbA1c respectively compared to those on MDI (74 (95% CI 68–79) vs 65 (95%
CI 61–70) PZ0.043 and 63 mmol/mol (95%CI 60–65) vs 71 mmol/mol (95% CI
68–74) P!0.0001). Children living in the most deprived quintile had a BMI 9
centiles higher than those living in the least deprived quintile (PZ0.035).
OC7.7 A multiple regression showed that a younger age at diagnosis, duration of
Paediatric Type 2 diabetes in a single centre in East London in the diabetes, living in a higher level of deprivation, a higher total daily insulin dose,
period 2009–2018 and usage of pumps, were all risk factors for a higher BMI (P!0.0001).
Anna Giuffrida1,2 & Evelien Gevers1,3 Conclusion
1
Barts Health NHS Trust, Royal London Children’s Hospital, Department of Children with T1DM have a higher BMI than the UK reference population.
A higher BMI centile was associated with living in higher deprivation areas,
Paediatric Diabetes, London, UK; 2Università degli Studi di Catania,
Catania, Italy; 3Centre for Endocrinology, William Harvey Research a younger age of onset and more intensive insulin regimens. Being overweight is a
risk factors for developing long-term adverse cardiovascular outcomes in T1DM
Institute, Charterhouse Square, London, UK
and care should be taken to monitor weight carefully.
Background
The incidence of Paediatric type 2 diabetes is increasing, especially in areas of
deprivation.
Aim
To describe the cohort of CYP with T2D in Royal London Hospital over the
period 2009–2018.
Methods
Retrospective analysis of patient cohort.
Results OC7.9
Number of new patients doubled from 2.6/year in 2009–2013 to 5.3/year in 2014– Does having a first degree relative with type1 diabetes impact on a child
2018. Prevalence in our cohort is 7.5% (national average of 2.5%, NPDA 2017– and family’s engagement and glycaemic control?
2018). Fourty patients (25 female, 15 male) were diagnosed in 2009–2018, with a Evelyne Kiu1, Alison Darby2, Mark Denial2 & Charlotte Elder2,1
1
mean age at diagnosis of 13.9C/K1.7yrs. Males had more frequently learning The University of Sheffield, Sheffield, UK; 2Sheffield Children’s NHS
difficulties compared to females (40% vs 20%). Sixty % of patients were Asian Foundation Trust, Sheffield, UK
compared to 28% in our T1D cohort. BMI at presentation was 31.5 kg/m2 (23
females) and 33.85 kg/m2 (13 males). BMI remained stable for females for the
first year after diagnosis but in males increased to 34.6 kg/m2 (nZ10). At Introduction
diagnosis, Metformin was started in 38/40 patients although 7 patients reduced Although not directly inherited, genetics play a significant role in the chances of
the dose and 6 stopped due to side effects. 12/36 patients started also on long- developing Type1 Diabetes (T1DM), yielding a risk of 2–40% depending on the
acting insulin (0.28C/K0.17 U/kg), in 6 combined with prandial insulin first degree relative (FDR) affected. T1DM is a self-managed condition in which
(0.42C/K0.20 U/kg). Seven patients started long-acting insulin at a later stage education and patient/carer engagement are key. We had noted cases of poor
and 6 required prandial insulin too. 1 patient was treated with Sitagliptin. HbA1c engagement and glycaemic control in our patients with a FDR with T1DM but
at diagnosis (nZ27) was 75.2C/K20 mmol/mol, similar for males and females. found a paucity of literature examining this relationship.
HbA1c dropped to 55.0C/K17.4 mmol/mol after 3 months, to increase again to Methods
63.0C/K25.8 and 67C/K28 after one (nZ25) and 2 years (nZ23). Nineteen of We conducted a retrospective, case-controlled study in spring 2019. Our study
38 patients achieved a HbA1c ! 48 at least once, but only 9 of 35 achieved an cohort of patients with one or more FDR with T1DM were matched by age, sex,
HbA1c ! 48 for a year. Of these, 3 continued to be on insulin and in 1 patient insulin regimen, duration of diabetes and age at diagnosis. We collated data on
insulin was stopped. Two patients relapsed. Complications were as follows: 11/21 clinical presentation, HbA1c, hospitalisations, insulin regimen and clinic
hypertension, 6/28 sleep apnoea, 10/30 raised ALT and 9/24 fatty liver. attendance (including education clinic). Statistical analyses used Students’
Conclusion t-test, Mann–Whitney U and Fisher’s exact test.
Learning difficulties in patients with T2D are frequent. Complications of Results
obesity/T2D are common in this cohort. Current treatment does not achieve We identified 25 patients (11F) with a FDR with T1DM, ~12% of our patient
permanent reduction in BMI and HbA1c in most patients although temporary population. Eleven had a parent, 12 at least one sibling and two both a parent and
reduction of HbA1c is possible. New treatment approaches are needed to improve sibling affected. For the study and control cohorts: mean age at diagnosis was 8.12
outcomes. (range 0.92–15.92) and 9.26 (2.17–15.67); mean duration of T1DM was 6.53
(1.27–16.80) and 5.70 (0.57–15.11) and mean deprivation decile was 3.80 and
3.71 respectively. There were no significant differences in these figures or insulin
regimen between the two groups. At presentation, the study cohort had lower
mean HbA1c (87.7, 110.5 mmol/mol; PZ0.02). Although not statistically
significant, fewer patients in the study cohort presented in DKA (13.6%,
31.6%; PZ0.46) and a lower proportion had subsequent hospital admissions for
DKA (25%, 37.5%; PZ0.24). The study cohort had a higher mean HbA1c one
OC7.8 year after diagnosis (65.2, 56.6 mmol/mol, PZ0.02). Although not significant,
Children with type 1 diabetes on intensive insulin, in deprived areas and the study group had poorer clinic (81.3%, 87.2%; PZ0.17) and education clinic
younger onset are at risk of being overweight attendance (30.09%, 33.88%; PZ0.60).
Discussion
Alexandra Urquhart1 & Justin T Warner2
1 Our patients with a FDR with T1DM presented earlier but had a higher HbA1c a
Cardiff University, Cardiff, UK; 2Children’s Hospital for Wales, University year after diagnosis with a trend to lower levels of engagement with the diabetes
Hospital Wales, Cardiff, UK team, highlighting the need for healthcare professionals to guard against
complacency and ensure appropriate support and education for patients with a
Introduction FDR with T1DM.
Children with type 1 diabetes mellitus (T1DM) are at increased risk of being DOI: 10.1530/endoabs.66.OC7.9
overweight. Being overweight could be related to insulin requirements, female

Oral Communications 8 sublingual tablet. 34% prescribe hydrocortisone solution. 30/32 consultants
responded to the question on sick day advice. The following regimens were
OC8.1 advised; double standard dose (nZ8), double or triple standard dose dependent on
Random cortisols – as useful as a chocolate teapot (but less tasty)? illness severity (nZ5), double the dose with an additional dose overnight (nZ7),
Sharon Colyer1 & Charlotte Elder1,2 double or triple dose dependent on illness severity with an additional overnight
1
Sheffield Children’s NHS Foundation Trust, Sheffield, UK; dose (nZ6), 30 mg/m2 every 6 hrs (nZ4). Data on timings of hydrocortisone
2
The University of Sheffield, Sheffield, UK dosing was available from 134 parents. The average gap between overnight doses
was 10.2 h (range 5–16 h) with the last dose being administered at 2045 h (range
1500–2400 h) and the first dose at 0630 h (range 0100–0800 h). In the last 12
Introduction months 55 out of 134 respondents (41%) reported needing to use their emergency
Unstimulated cortisol is commonly used as a screening test for adrenal injection.
insufficiency. In the UK over the last decade there has been a large increase in Conclusion
the numbers of requests for cortisol being made in both primary and secondary There is a wide variation in hydrocortisone prescribing practice in the UK. Parents
care. To increase the specificity of an unstimulated cortisol, and thus reduce of patients who participated in this survey report a high rate of requiring
unnecessary referrals and Short Synacthen Tests, the recommendation is that an emergency hydrocortisone management. Further studies should focus on the
early morning cortisol (EMC) is performed between 08:00 and 09:00 h. There is timing of reported adrenal crisis and whether this relates to the length of time
evidence that an EMC below !160 nmol/l is highly predictive of failing the SST between hydrocortisone doses.
and the corollary is seen with an EMC above >340 nmol/l. We analysed our
cortisol data over a six-month period to evaluate the proportion of samples taken
outside the recommended time period and evaluate the effect of timing on the
cortisol result.
Methods
A retrospective analysis was performed of all serum cortisol samples processed in
our Trust between November 2017 and April 2018. Cortisol samples taken as part
of a hypoglycaemia screen or SST were excluded. Cortisol quantification was OC8.3
performed on the Abbott Architect i1000 chemiluminescent immunoassay (CVs Specially identified patients (SIPs) – how do they work?
!5%). Based on published data the results were grouped into !160 nmol/l, 160– Vipul Rajyaguru, Shin Tan, James Law, Pooja Sachdev, Louise Denvir &
339 nmol/l or >339 nmol/l and the time each sample was taken collected. Before Tabitha Randell
09:15 h (to allow some leeway) was considered ‘early morning cortisol’ and after Nottingham Children’s Hospital, Nottingham, UK
09:15 h ‘random cortisol’ (RC).
Results
Overall 226 serum cortisol samples were analysed, 50% (114) were EMC and Introduction
50% (112) RC. The EMC group resulted in 36% of samples !160 nmol/l Children with adrenal insufficiency require emergency hydrocortisone for serious
compared to 64% of the RC group. The reverse was seen in results >340 nmol/l, illness in addition to any regular requirements. Individualised emergency plans
with 67% from the EMC group and 33% from the RC group. Of samples collected for patients during sick days, detailing their oral and intramuscular hydrocortisone
before 0915 h 46% (52/114) were >340 nmol/l, thereby confidently excluding requirements, should be maintained, alongside appropriate alerts on hospital and
adrenal insufficiency, compared to 23% (26/112) of those samples taken after pre-hospital systems to ensure health professionals are aware of their
09:15 h. requirements promptly if they present acutely unwell. Following a child death
Conclusions review, we audited whether patients had appropriate plans and corresponding
Taking cortisol samples before 09:00 h significantly increases the specificity of alerts in place.
the screening for adrenal insufficiency and avoids unnecessary referrals to Methods
endocrinology and SSTs. As a result of our study we have introduced a new Data was collected from two local paediatric endocrinology databases. Patients on
autocomment issued on all cortisol samples with interpretative comments ONLY these databases who were seen in outreach, had transitioned to adults, died or
provided for those timed before 09:00 h. whose adrenal deficiency had resolved, were excluded. The digital health records
DOI: 10.1530/endoabs.66.OC8.1 and local alert systems were reviewed to identify the presence of a steroid plan,
the presence of a steroid deficiency alert and whether the steroid plan was current
(defined as !12 months old or with appropriate emergency doses based on
auxology from the last clinic attendance).
Results
79 patients were identified. Reasons for steroid deficiency included: multiple
pituitary hormone deficiency (46%), congenital adrenal hyperplasia (35%),
OC8.2 congenital adrenal hypoplasia (1%), Addison’s disease/APECED (5%) and
exogenous steroid use (13%). 68 patients (86%) had an alert and plan. Of the 11
Adrenal Insufficiency: hydrocortisone prescribing and sick day rules patients without an alert, 4 also did not have a steroid plan (omission: nZ3; lost to
Cameron Webb1, Heather Stirling2, Stephanie Kerr3, Justin Davies3, follow-up: nZ1). Of 7 patients with a plan but no alert, 2 were outreach patients
Hannah Batchelor1 & Emma Webb4 (and may have had alerts at their local hospitals) with oncology follow-up at our
1
University of Birmingham, Birmingham, UK; 2University Hospitals hospital, and 5 were omissions. The plan was up to date in 66/75 patients (88%):
Coventry and Warwickshire, Warwick, UK; 3Southampton General 9 recommended a suboptimal intramuscular hydrocortisone dose and 4 rec-
Hospital, Southampton, UK; 4Noroflk and Norwich University Hospital, ommended a suboptimal oral hydrocortisone stress dose.
Norwich, UK Conclusion
The majority of patients have both a steroid plan and alert. However an important
minority are missing either an alert or both. In addition, there is a possibility that
Introduction
the databases are incomplete. Imminent implementation of SNOMED CT should
Exposure to deficient/excess glucocorticoids can lead to long-term health
reduce this risk in the future. At times of serious illness, alerts and steroid plans
problems in patients with adrenal insufficiency. Historically and age-appropriate
can be lifesaving. The omissions identified have been rectified. Annual re-audit
hydrocortisone formulation has not been available. Adrenal crisis is associated
will allow omissions to be promptly identified.
with significant morbidity and mortality.
Aims DOI: 10.1530/endoabs.66.OC8.3
To assess prescribing practice for oral hydrocortisone and sick day advise across
the UK.
Methods
Paediatric endocrinologists and parents[HC(UC1] of children with adrenal
insufficiency from across the UK completed a survey assessing hydrocortisone
dosing and sick day advise in children taking oral hydrocortisone.
Results
OC8.4
32 consultant paediatric endocrinologists and 134 parents from across the UK Optimising transition care in endocrinology: an example of
completed the questionnaire. To achieve doses of !10 mg in children aged !6 patient-focused quality improvement
years; 31% physicians recommend a pharmacy suspension, 28% buccal Taffy Makaya1, Aparna Pal2, Gemma Anderson2, Helen Loo2 &
hydrocortisone and the remainder a dispersion prepared by cutting or crushing Muhammad Masood Ashraf2
1
the tablet. Overall 47% of respondents are comfortable prescribing multiples of Oxford Children’s Hospital, Oxford, UK; 2Oxford Centre for Diabetes,
2.5 mg sublingual hydrocortisone and 28% are comfortable prescribing half a Endocrinology and Metabolism, Oxford, UK

Introduction OC8.5
The importance of good transition care has been highlighted by NICE and NHSI. The impact of Prader–Willi syndrome multidisciplinary clinic on
Over the last 5 year we have focused on transforming our endocrine transition growth parameters
service. Kun Hu1, Ruth Krone1, Rebecca Follows1, David Marks2 &
Background Timothy Barrett1
Our centre took part in the BSPED/BES-led 2014 National Adolescent Care and 1
Birmingham Children’s Hospital, Birmingham, UK; 2Royal Orthopaedic
Transition Audit of Young people with Hormone Conditions. From this we Hospital, Birmingham, UK
identified key areas for service improvement including: families wanted to
establish a better relationship with and have more confidence in staff looking after
their children; wanting more information/support around transition processes and Introduction
about their condition, allowing them to feel more empowered. Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally
Methods inherited genes on chromosome 15q11-13. It is characterised by neonatal
We worked on the following: hypotonia, childhood hyperphagia and obesity, hypogonadism, cognitive and
† Named Paediatric, and Adult Consultant; named Adult Endocrine Nurse for the behavioural disabilities, and development of scoliosis. PWS multidisciplinary
transition Clinic. (MDT) clinics were introduced from 2004 at Birmingham Children’s Hospital, a
† Engaged managers from adult/paediatric service teams; members of the tertiary paediatric centre. This enabled centralised coordination of growth
Children’s Network Transition Working Group, to facilitate changes in job hormone (GH) and scoliosis management, with orthopaedic support. Our
plans, IT processes, and implementation of the Ready Steady Go (RSG) objective was to review the impact of PWS MDT clinics on growth parameters,
programme. in particular in children with scoliosis.
† Worked closely with a pharmaceutical company which was piloting a Methods/design
Structured Endocrine Transition project, providing facilitation support to align Retrospective observational study of sixty-eight children with genetically
our service with the NICE guidance on transition care. confirmed PWS, seen in a tertiary paediatric centre, from 2001 to 2019. Duration
† Involved parents/patients in drafting a standard operating procedure (SOP). of follow-up was 1 year (reviewed in the last 12 months) to 14 years. Data were
† Follow-on service evaluation 5 years after the initial BSPED/BES audit. collected on growth hormone dose, scoliosis and treatment, height, weight and
Outcomes BMI SDS. We compared children with (nZ34) and without (nZ32) scoliosis
† A SOP has been agreed with critical input from families. defined by a Cobb angle greater than 10 degrees.
† From January 2016 we transformed the transition clinic from a single handover Results
appointment to a longitudinal clinic, seeing patients 2–3 times in a joint adult- Median height SDS at 14–16 years was K2.9 in patients born before 2004
paediatric consultation; with marked improvement in care outcomes: (nZ21), compared to K1.47 in patients born after 2004 (nZ5), (PZ 0.01). The
prevalence of scoliosis in patients born before 2004 was 76.9% (20/26), compared
to 35.0% in patients born after 2004 (14/40) (P!0.001). 52.2% (12/23) of
May 2013-December January 2016–June patients born before 2004 were on GH, compared to 85.4% (36/41) in patients
2015 (2.5 years): One 2018 (2.5 years): born after 2004 (P!0.001). When all children with scoliosis were reviewed, aged
handover clinic Longitudinal clinic 1 to 20 years, the last known median height SDS was K1.25, compared to K1.69
in the non-scoliosis group (PZ0.01). However, this difference was not apparent
Clinics/year 4 6 when comparing each groups’ height SDS at 14–16 years, K2.74 vs K2.62
Total clinics 10 15 (PZ0.82). There was no significant difference when comparing height SDS
Total number patients seen 41 69 before and 1 year after scoliosis treatment, and neither in the GH doses between
Lost to adult follow-up 10% 3% scoliosis and no scoliosis groups.
Referrals to adults seen 42% 81% Conclusions
%6 months Introduction of a PWS MDT clinic has resulted in: more children treated with GH;
decrease in scoliosis prevalence; relatively taller children; continuing GH
† All patients now complete a RSG questionnaire which is discussed during treatment in children with scoliosis and comparable final height SDS between
clinic; appropriate condition-specific patient information leaflets and sign- children with and without scoliosis.
posting information are provided. DOI: 10.1530/endoabs.66.OC8.5
† Patient and family satisfaction (nZ21):
B ‘happy with the care I receive from the transition service’Z95%
B ‘treated well by the people who see me’Z90%
Conclusions
Through extended collaborative working we transformed our endocrine transition
service into a results driven, patient-centred service, with excellent outcomes.

Poster Presentations

Adrenal, Gonadal, DSD and Reproduction, and negatively associated with BMI SDS (BZK31.0; PZ0.087). However, morning
Basic Science 17-OHP levels were not associated with evening hydrocortisone dose nor with
total hydrocortisone dose. Evening 17-OHP levels were borderline negatively
P1 associated with afternoon hydrocortisone dose (BZK47.3; PZ0.086). Gender,
Learning from clearance studies, 24 h profiling and pump therapy – age, height or phenotype were not associated with 17-OHP levels.
PUTTING the onus on cortisol replacement rather than 17OHP and
androstenedione
Peter Hindmarsh Table 1
University College London Hospitals, London, UK
Baseline NZ20
Convention places 17OHP measures as the way to monitor replacement therapy in Gender (male/female) 10/10
congenital adrenal hyperplasia due to P450c21 deficiency. One case several years Age at visit (years)* 11.4 (3.6)
ago led to questioning of this approach as the 17OHP measures suggested Puberty stage (pre/postpubertal) 13/7
inadequate replacement with hydrocortisone using a general dosing regimen of CAH phenotype (salt losing/late onset) 16/4
12 mg/m2/day and questions about compliance. 24 h cortisol profiles showed high Total glucocorticoid dose (mg/m2)* 13.6 (3.2)
17OHP concentrations with low cortisol concentrations. Careful studies revealed
rapid clearance of hydrocortisone (half-life 40 min), reduced bioavailability of
80% with increased conversion of cortisol to cortisone via the cortisol ‘shuttle.’ Table 2
Subcutaneous hydrocortisone delivered by a pump system corrected the cortisol
deficiency, mimicked the circadian rhythm and normalised 17OHP and Treatment Morning Afternoon Evening Night
androstenedione. Personalised treatment needs an understanding of pharma-
cology. Studies in 72 individuals has revealed half-life values ranging from 40 to Glucocorticoid dose 4.9 (1.3) 2.9 (1.1) 5.7 (2.4)
223 min (average 80 min) and absorption maximum concentrations at 60 min (mg/m2)*
(range 20K120 min) after a dose with a Tmaxof 60 min in the morning and 17-OHP level (nmol/l)† 239 (307) 37.0 (167) 7.9 (79.0) 7.9 (3.0)
100 min at night (PZ0.01). Hydrocortisone replacement is an open loop system
but it is cortisol that regulates the hypothalamo-pituitary axis not the normal Values expressed as *mean (S.D.) or †median (IQR).
hypothalamus and ACTH. 24 h profile data show a complex relationship between
cortisol and the often used biomarker of control – 17OHP. There is a feedback lag
in the system of 2 h between the cortisol peak and the resulting effect on 17OHP. Conclusion
With a 24h mean plasma cortisol concentration of 150 nmol/l, plasma 17OHP and 17-OHP levels were negatively associated with total daily hydrocortisone dose
A4 are undetectable. This mean plasma cortisol concentration is lower than the and therapy could be titrated based on blood spot 17-OHP levels. Morning
range encountered in individuals without adrenal problems. What may appear as 17-OHP levels, however, are not associated with evening hydrocortisone dose.
‘over-treatment’ based on 17OHP and androstenedione may be under-treatment Therefore, our results do not support reverse circadian rhythm hydrocortisone
from the cortisol rhythm standpoint. Attaining the target of 17OHP and/or A4 therapy in children with CAH.
suppression does not mean that ambient cortisol concentrations are adequate. DOI: 10.1530/endoabs.66.P2
17OHP is also influenced by stress, pain, polycystic ovaries and the presence of
rests. Finally, assessing the relationship between cortisol and 17OHP has
demonstrated that the IC50 for 17OHP is 50 nmol/l which indicates the need to
ensure cortisol delivery, whether by oral therapy or pumps, with plasma cortisol
concentrations maintained as much as possible above 50 nmol/l.
DOI: 10.1530/endoabs.66.P1
P3
Non classical congenital adrenal hyperplasia presenting with a severe
salt losing crisis
Ruth Ming Wai Kwong1, Hoong-Wei Gan1, Sarah Pitkin2, Anne Dawnay2 &
Claire Hughes1
1
Department of Paediatric Endocrinology, Royal London Children’s
P2 Hospital, Barts Health NHS Trust, London, UK; 2Barts Health NHS Trust,
Variations in 17a-hydroxyprogesterone response to hydrocortisone London, UK
treatment for congenital adrenal hyperplasia in children
A Emile J Hendriks1,2, Sue Oddy3, David J Halsall3 & Ajay Thankamony2
1
Department of Paediatrics, University of Cambridge, Cambridge, UK; 2The Introduction
Weston Centre, Department of Paediatric & Adolescent Diabetes and Non-classical congenital adrenal hyperplasia (NCCAH) is a common autosomal
Endocrinology, Cambridge University Hospitals NHS Foundation Trust, recessive disorder characterized by androgen excess. It classically presents in
Cambridge, UK; 3Department of Clinical Biochemistry, Cambridge later life with symptoms of acne, hirsutism, and premature adrenarche. This case
University Hospitals NHS Foundation Trust, Cambridge, UK illustrates a rare case presentation of NCCAH in early infancy.
Clinical case
An 18 day old term male infant was brought to the A&E for 9% weight loss. On
Introduction review he was mottled, but otherwise examination was unremarkable; he had
Hydrocortisone is the main treatment for congenital adrenal hyperplasia (CAH) in normal male external genitalia with bilaterally descended testes. Initial
children. The optimal biochemical monitoring and replacement regimen of these investigations revealed a severe salt losing crisis (sodium 121 nmol/l, potassium
children continues to be debated. We explored variations in blood spot 17a- 8 mmol/l) and a mild metabolic acidosis. He was initially treated with IV fluids
hydroxyprogesterone (17-OHP) levels. and antibiotics for suspected urosepsis. Following investigations intravenous
Methods hydrocortisone, sodium chloride supplements and fludrocortisone were com-
Single centre retrospective cross-sectional study of children with 21-hydroxylase menced in view of suspected CAH. Initial random baseline cortisol and androgen
deficiency aged !18 years. Patients treated with hydrocortisone who had dried profile was normal, with markedly raised aldosterone (18 900 pmol/l) and Renin
blood spot 17-OHP levels measured between October 2014 and April 2018 were (307.8 nmol/l per hour) concentration but a normal urine steroid profile (USP). A
included. On sampling days, patients collect four blood spots on filter paper cards; standard synacthen test (SST) showed baseline cortisol 707 nmol/l and stimulated
one before each hydrocortisone dose and one at midnight. Most patients had 1046 nmol/l with normal androgens. Hydrocortisone, fludrocortisone and salt
multiple samples; the first sample in prepubertal patients and the last sample in supplements were therefore stopped with a provisional diagnosis of pseudohy-
postpubertal patients was selected. Clinical data at the time of sampling was poaldosteronism. Surprisingly, 17-OHP results from the SST subsequently
recorded. demonstrated a significant rise from a baseline of 15.1 to 203.0 nmol/l at 60 min.
Results A repeat SST at age 1 month off all medications again confirmed an adequate
Twenty children were included in the study; baseline characteristics and treatment cortisol response to 538 nmol/l but with abnormally raised 17-OHP. Pre- and
specifics are shown in Tables 1 and 2. post-synacthen USP were initially reported as normal. CYP21A2 Sanger
In a linear regression model (independent variables: gender, puberty, BMI SDS sequencing subsequently revealed a compound heterozygous mutation for
and glucocorticoid dose), mean daily 17-OHP levels were negatively associated c.841G>T (p.V281L) and C.1357C>t (p.P453S), both known to be associated
with total daily hydrocortisone dose (BZK18.4; PZ0.036), positively with NCCAH. Serial U&Es remained stable off treatment but ACTH
associated with being postpubertal (BZ147.3; PZ0.013) and borderline concentrations were intermittently raised up to 314 ng/l, now normalized to

37 ng/l. Aldosterone levels have normalized (2740 pmol/l) but Renin remained Aims
raised (23.5 pmol/l per hour). Retrospective analysis of previous urine steroid The aim was to identify the optimal transfection conditions for the intracellular
profiles showed very mildly raised 11-oxopregnanetriol concentrations in keeping delivery of Cas9 protein and gRNA in bTC-6 cells so as to create a KO mouse cell
with the diagnosis. model of Congenital Hyperinsulinism (CHI). Such cellular models would play a
Discussion key role in the elucidation of the molecular mechanisms underlying CHI.
To our knowledge, this is the earliest reported presentation of salt-losing crisis in Methods
a patient with genetically proven non-classical CAH, most likely reflecting an gRNAs were designed to target two genes of interest- Abcc8 and Hadh.
additional diagnosis of transient pseudohypoaldosteronism Optimisation of the delivery of CRISPR/Cas9 system included the evaluation of
DOI: 10.1530/endoabs.66.P3 different formats such as plasmid DNA, mRNA and RNP complex using a
reporter gene. Transfections were performed using different combinations of
molecules including: plasmid DNA, Cas9 protein and gRNA in an RNP format to
maximize targeting of the Abcc8 and Hadh gene in bTC-6 cells. A reporter (GFP)
was initially used to evaluate the transfection efficiency of the plasmid DNA and
mRNA with flow cytometry and fluorescent microscopy being used to detect the
GFP signal. To obtain the highest transfection efficiency, conditions were
optimised by varying cell density and amount of transfection reagent. For the
P4 delivery of Cas9/gRNA as an RNP format, different non-viral vectors including
A regional service for children and young people with familial Lipofectamine 2000 and nanocomplexes were used. At the molecular level, the
hypercholesterolaemia: lessons learnt disruption of the gene was confirmed by Sanger sequencing and T7 ENDO assay.
James Nurse, Meera Shaunak, Catherine Sherman, Angela Cazeaux & Results
Nikki Davis Progress so far has addressed the optimisation of transfection conditions to deliver
University Hospital Southampton NHS Trust, Southampton, UK CRISPR/Cas9 in bTC-6 cells. Determination of editing efficiency using the ICE
tool by Synthego revealed a low KO score.
Introduction Future work
Familial Hypercholesterolaemia (FH) is an autosomal dominant inherited Transfection by electroporation using synthetic sgRNA pre-complexed to the Cas
disorder of lipid metabolism. Affected children have elevated cholesterol from protein in the ribonucleoprotein (RNP) format may improve editing efficiencies.
birth with accelerated atherosclerosis and significant cardiovascular disease DOI: 10.1530/endoabs.66.P5
(CVD) from the third decade. 1 in 250 people are affected and early treatment can
eliminate the risk of premature CVD. Genetic testing guidance was published in
August 2008 and a CVD outcomes strategy was produced in 2013. From 2014 the
British Heart Foundation began to fund specialist FH nurses.
Service report
A formal regional paediatric service was established at University Hospital
Southampton in 2014, encompassing a consultant, dietician and specialist nurse.
118 children and young people have been identified with FH since then, with
increasing numbers year by year. Average age at referral is 9.3 years (4 months to
16 years); almost all are referred by nurse specialists via the cascade screening P6
program. In our cohort average LDL-cholesterol at diagnosis was 4.9 mmol/l
Improving midwives’ recognition of atypical genitalia and differences of
(1.6–9). LDLR variants were identified in 70%, APoB variants were identified in
sexual development (DSD) through the use of an e-learning module
20% and PCSK9 variants in 3% (remainder polygenic or unknown). All children
Danielle Eddy, Elizabeth Crowne & Julie Alderson
were offered diet and lifestyle advice with face to face input from a specialist
dietician. At the time of this review, 57 children are on statin therapy, this was Bristol Royal Hospital for Children, Bristol, UK
initiated in 14 children before 10 years of age. Statin treatment led to a LDL-
cholesterol fall of 46% (6.15–3.31 mmol/l) for children under 10 years and for Background
those older than 10 years: 40% (5.52–3.34 mmol/l). 86% of young people on Confident recognition of atypical genitalia of the newborn and early referral to
treatment are on atorvastatin monotherapy; the majority are on 10 mg. Only one specialist centres allows for the smooth and successful management of DSD
child changed medication due to side-effects. patients. Midwives conduct the majority of newborn infant physical exam (NIPE)
Conclusions yet may not be confident in recognising DSD and talking to families affected.
In our experience, effective control of cholesterol levels can usually be achieved Aim
on low doses of statin with good tolerance. The creation of a formal sub-speciality To develop an e-learning module for examining newborn genitalia, recognising
paediatric service has aided diagnosis and started to standardise care, optimising the significance of differences in genital appearance and how to communicate and
long-term health outcomes. However, detection rates remain low with support a family with DSD.
approximately only 10–15% of local cases diagnosed so far. In light of the Methods
significant health impact of this condition, we believe population screening needs A questionnaire was completed by midwives to assess the need for education
to be considered to improve identification and early treatment. around DSD. This revealed confidence in DSD recognition is poor and that there
DOI: 10.1530/endoabs.66.P4 is concern around how to communicate and support families with DSD. The
Royal College of Midwives (RCM) was approached with this data and a decision
was made to develop an interactive e-learning module to be hosted on the RCM
e-learning environment; accessible by all midwives who are registered with the
college.
Results
An online and interactive module was co-produced with endocrinologists, a
P5 clinical psychologist and midwives and covers the following areas;
† DSD background
Optimisation of transfection methods using various formats of gRNA † Examination of newborn genitalia
delivery for CRISPR Cas9 mediated gene knock out in Beta-TC-6 cells † Recognising the variations of normal genitalia
Preetha Purushothaman1, Amy Walker1, Martin Attwood1, † Recognising atypical genitalia
Ruhina Maeshima1, Khalid Hussain2 & Stephen Hart1 † Discussing concerns with parents
1
UCL GREAT ORMOND STREET INSTITUTE OF CHILD HEALTH, † Referring to paediatrics
London, UK; 2Sidra Medical and Research Center, Doha, Qatar † Supporting families at times of uncertainty
† Sources of information and support
Background † DSD quiz
The CRISPR/Cas9 genome-editing platform is a powerful technology to create We plan to review the impact of this training module in future through reviewing
genetically engineered cells and organisms. However, the success of CRISPR the results of the end of module quiz and through feedback from participants. It is
genome editing experiments is limited by the intracellular delivery and expression hoped this module will improve midwives confidence in examining newborn
of Cas9 endonuclease protein and guide RNA (gRNA). Beta-tumour cells (bTC- genitalia and give them the practical tools to communicate with and support
6), derived from transgenic mice, exhibit glucose stimulated insulin secretion families affected by DSD.
which makes them a valuable tool in understanding the mechanisms that regulate DOI: 10.1530/endoabs.66.P6
insulin secretion.

Bone Results
Median age was 5.5 years(y) (rangeZ19m–11y). Table below shows clinical and
P7 functional improvements over 12m.
Burosumab experience in UK XLH children under five years old
Poonam Dharmaraj1, Christine Burren2, Moira Cheung3, Raja Padidela4,
Zulf Mughal4, Nick Shaw5, Vrinda Saraff5, Ruchi Nadar5, Talat Mushtaq6, Baseline 12m
Renuka Ramakrishnan1, Senthil Senniappan1, Sophia Sakha3, John Barton2, Test MeanGS.D. MeanGS.D. P value
Ian Tucker2, Lauren Rayner4, Paul Arundel7, Robyn Gilbey-Cross3,
Alexander Tothill8, James Philip9, Nadine Sawoky9, Paul Connor9 & Phosphate (1.0–1.9 mmol/l) 0.7G0.1 1.1G0.1 P!0.001
Leigh Mathieson9 ALP* (139–347 IU/l) 415G73 322G70 P!0.001
1
Alder Hey Children’s Hospital, Liverpool, UK; 2Bristol Royal Hospital for PTH** (10–65 ng/l) 31G14 42G16 P!0.05
Children, Bristol, UK; 3Evelina Children’s Hospital, London, UK; 4Royal Ur Ca:Creatinine (0.05–0.60) 0.44G0.21 0.37G0.23 Not significant,
Manchester Children’s Hospital, Manchester, UK; 5Birmingham Children’s PZ0.51
Hospital, Birmingham, UK; 6Leeds Teaching Hospitals, Leeds, UK; TmP/GFR1 *** (1.15–2.44) 0.56G0.11 1.19G0.18 P!0.001
7
Sheffield Children’s Foundation Trust, Sheffield, UK; 8MAPBiopharma, Height Z-scores K2.600G0.813 K2.435G0.787 P!0.05
Cambridge, UK; 9Kyowa Kirin International, Galashiels, UK Thatcher Scores (out of 10) 2.0G1.5 0.4G0.3 P!0.05
TUG (NZ5,seconds) 5.7G0.5 4.8G0.6 P!0.05
6MWT (NZ4, metres) 258G75 447G53**** PZ0.05
Objectives
X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia
*Alkaline Phosphatase, **Parathyroid hormone, ***Ratio of renal tubular
characterised by low blood phosphate levels which lead to inadequate
maximum phosphate reabsorption.
mineralization of bone and rickets. Burosumab is an anti-FGF23 fully human
monoclonal-antibody, and the first treatment to target the underlying pathophy-
siology of XLH. We report relevant real-world biochemical data on children
under five years old for the first 6 months of treatment. Deformity
Methods Six children had lower limb deformity; varus(NZ3), valgus(NZ2), wind-
An early access program (EAP) for burosumab was made available for children in swept(NZ1). All but one noticed improvement at 12m with reduced
the United Kingdom with XLH in 12 specialist centres. Inclusion criteria for the intercondylar/intermalleolar distances.
EAP included radiographic evidence of disease, XLH confirmed by genetic Pain/fatigue
PHEX mutation or familial X-linked inheritance mutation or family history. One child reported no pain. 12m PSS scores decreased for 6 patients and
Patients must have also had an unsatisfactory response to best available care and increased for 1. 3 recorded higher PSS at 6m, improving by 12m. PSS MeanGS.D.
treatment. EAP enrolment was between January and March 2018. A total of 142 was 2.3G1.3 at baseline and 1.0G1.2 at 12m (maximum score 10). MeanGS.D.
applications were received of which 135 were approved with 132 receiving PEDsQL-Fatigue scores were 64G19 at baseline and 76G17 at 12m (maximum
treatment (dose in accordance with EMA marketing authorisation). score 100, PZ0.2).
Results Quality of Life
Data are available on 10 children under five years (mean age 2.8 years; 1.6–4 MeanGS.D. PEDsQL-Core score improved from 69G17 at baseline to 81G15 at
years) who have completed a median of 6 months (20–26 weeks) of burosumab 9m, however decreased to 67G17 by 12m (NZ7,maximum score 100). This is
treatment. Mean height and weight at week 0 was 85.5 cm (75–97.3 cm) and despite verbal reports of improvements and may reflect a shift in expectation.
12.8 kg (9.9–18.2 kg) respectively. Mean dose administered was 0.81 mg/kg Conclusion
(0.55–1.01 mg/kg) at week 0 and 1.09 mg/kg (0.57–2.01 mg/kg) at the end of the In a real-world setting, burosumab can improve biochemistry, growth, deformity,
20–26 week period. Mean fasting serum phosphorus was 0.73 mmol/l (0.6– pain and function in children with XLH.
0.83 mmol/l) in week 0 rising to 1.02 mmol/l (0.82–1.3 mmol/l) at week 20–26 DOI: 10.1530/endoabs.66.P8
representing a 40% increase in serum phosphate levels. Mean serum ALP fell
from 808.2 IU/l (297–2124 IU/l) at week 0 to 612 IU/l (291–1459 IU/l) at week
20–26, representing a 24% decrease in ALP. No patients discontinued treatment
due to adverse events.
Conclusions
Early data from treating young children with XLH with burosumab in a real-
world UK setting demonstrate that key biochemical responses are aligned with P9
findings from the clinical study program. This provides reassurance that the
improvement in key biochemical parameters is consistent across all ages within Evidence for association of PTEN-harmatoma-tumor syndrome with
its licensed indication.
osteosarcoma
Ruth Ming Wai Kwong1, Ranna El-Khairi1, Rachael Windsor2 &
Evelien Gevers1
1
Department of Paediatric Endocrinology, Royal London Children’s
Hospital, Barts Health NHS Trust, London, UK; 2Department of Paediatric
Oncology, University College London Hospital, University College London
Hospitals NHS Foundation Trust, London, UK
Introduction
PTEN-harmatoma-tumor syndrome is an umbrella term that describes a group of
P8 genetic disorders linked to germline mutations of PTEN (Phosphatase and tensin
Clinical, functional and quality of life outcomes of Burosumab therapy homolog), a tumor suppressor gene that inhibits the PI3/Akt signalling pathway
in children with X-linked hypophosphoataemia: a real world, London thereby inhibiting proliferation, cell survival and angiogenesis. PTEN-harma-
experience toma-tumor syndrome encompasses Cowden‘s Syndrome, Bannayan–Riley–
Jessica Sandy, Robyn Gilbey-Cross, Rui Santos, Sophia Sakka, Ruvalcaba syndrome, and autism spectrum disorder (ASD) associated with
Alessandra Cocca, Mavali Morris, Jill Massey & Moira Cheung macrocephaly. It is associated with increased tumor risk mostly breast,
Evelina London Children’s Hospital, London, UK endometrial, thyroid, colon and renal malignancies and with benign growths
such as gastrointestinal polyps, brain and skin lesions. It has not been related to
osteosarcoma. Here we describe an osteosarcoma in a patient with a familial
Burosumab, monoclonal antibody targeting fibroblast growth factor 23, is now PTEN mutation.
available for clinical use in children with X-linked hypophosphatemia (XLH). We Clinical case
explored the effects of this treatment in a clinical setting, considering A 10 year old girl with, ASD, macrocephaly, global developmental delay (GDD),
biochemistry, growth, deformity, functionality, quality of life, pain and fatigue. obesity and epilepsy, was found to have inherited a PTEN mutation form her
Methods mother, when the mother was diagnosed with Cowden syndrome due to thyroid
Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and cancer and mild learning difficulties. The girl was regularly monitored for thyroid
12 months(m) for 8 children with XLH starting burosumab as well as 6-minute malignancy. She presented with a 1 week history of a limp. Imaging revealed
walk test (6MWT) and Timed Up and GO (TUG). Questionnaires included: Core periosteal reaction and findings suggestive of osteosarcoma of the distal left
Paediatric Quality of Life Inventory (PedsQL-Core), PedsQL multidimensional femur. Histological analysis of a biopsy confirmed high grade chondroblastic
fatigue scale (PedsQL-Fatigue), and Brief Pain Index Pain Severity Score (PSS). osteosarcoma. Staging was T2,N0,M0,G3, Overall America Joint Committee on

Cancer Stage: IIB. She underwent primary surgical resection and insertion of hypercalcaemia during a routine clinic review for failure to thrive. Apart from a
endoprosthesis as behavioural difficulties precluded safe administration of recent Influenza A infection, when he was found to have normal calcium levels
chemotherapy. She developed pulmonary and bone metastases 9 months later, and severe vitamin D deficiency (10.2 nmol/l), he was well. He was started on
had palliative radiotherapy, but passed away 5 months later. Her younger brother vitamin D treatment (6000 units daily). Blood tests 3 months later showed
with the same mutation has ASD, GDD, tall stature, obesity and macrocephaly. hypercalcaemia (3.52 mmol/l), with renal impairment (creatinine 65 micromol/l),
He developed a thyroid nodule, aged 10. A biopsy was in line with Th2 low-normal PTH (1.6 pmol/l), normal vitamin D (152 nmol/l), phosphate
classification and he is under close surveillance. He had several episodes of leg (1.03 mmol/l) and magnesium (0.84 mmol/l). He had resistant hypercalcaemia
pain without clear etiology. despite hyperhydration and furosemide, and required three doses of calcitonin,
Conclusion and two doses of pamidronate, to normalise his calcium levels. Parathyroid USS
This case report suggests the association between PTEN and osteosarcoma showed bilateral hypoechoic lesions. A whole-body nuclear medicine scan
confirming two recent case reports. PTEN is expressed in osteoprogenitors and showed no parathyroid or bony foci. A renal USS showed bilateral echogenic
targeted deletion in mice results in increased osteoblast number due to kidneys with no hydronephrosis or nephrocalcinosis. Tuberculosis and syphilis
autonomous differentiation from growth plate chondrocytes. Thus, osteosarcoma screens were negative. In view of persistent conjunctivitis, he was referred to
should be considered in patients with PTEN-harmatoma-tumor syndrome and ophthalmology. They found pan-uveitis with choroid scars, which together with
bone pain. Further research is required to establish incidence and requirement for high-normal serum angiotensin converting enzyme (ACE 108 U/l; range 29–
surveillance. 112 U/l) was suspicious of sarcoidosis. Further blood tests showed his 1,25-
DOI: 10.1530/endoabs.66.P9 dihydroxyvitamin D level was raised (154 pmol/l; range 55–139 pmol/l), with
normal 25-hydroxyvitamin D (93.5 nmol/l). He was given a clinical diagnosis of
sarcoidosis in view of pan-uveitis, choroidal scars and raised ACE (185 U/l), with
hypercalcemia likely secondary to raised 1,25-dihydroxyvitamin D. At 1 year, the
sarcoidal changes in his eyes have improved. He remains well, with no
musculoskeletal or respiratory symptoms, headache, hair loss, or mouth ulcers.
His calcium and renal function remain normal. It is unclear if his initial renal
P10 impairment was secondary to hypercalcaemia or sarcoidosis. There are numerous
Vitamin D levels of mothers with and without vitamin D case reports of children with sarcoidosis presenting with hypercalcaemia,
supplementation in pregnancy and their newborns secondary to increased 1-alpha-hydroxylase activity in granulomas, leading to
Zerrin Orbak1 & Turgay Aras2 increased 1,25-dihydroxyvitamin D, requiring treatment with steroids/bispho-
1 sphonates. Sarcoidosis should therefore remain in the differential of unexplained
Ataturk University Medical Faculty Pediatric Endocrinology, Erzurum,
Turkey; 2Ataturk University Medical Faculty Pediatrics, Erzurum, Turkey hypercalcaemia, especially if associated with additional skin, eye, renal or
respiratory features.
Introduction
Vitamin D regulates calcium and phosphorus metabolism. Although Turkey is a
sunny country, vitamin D deficiency is a major problem in pregnant mother and
their infants. The purpose of this study was to evaluate vitamin D levels in
mothers with or without vitamin D supplementation and their newborns’ cord
bloods.
Methods
Healthy pregnant women and their healthy term babies were enrolled in the study. P12
Levels of vitamin D, parathyroid hormone, calcium, phosphorus, magnesium and Vitamin D dependent rickets
alkaline phosphatase were measured in maternal venous blood and cord blood Susan Muniu1, Dhaara Iyer1,2 & Uma Kumbattae1
specimens during birth. Mothers were divided into two groups receiving and no 1
University Hospitals of North Midlands, Stoke-on-trent, UK; 2Birmingham
receiving vitamin D. Heartlands hospital, Birmingham, UK
Results
46 mothers and healthy babies were enrolled. Twenty-nine mothers (63%) had
used vitamin D during pregnancy, while 17 (37%) did not use it. The mean Introduction
vitamin D level of mothers were 8.9G4.8 mg /dl, and 5.4G2.8 mg/dl, Most common cause of rickets is vitamin D deficiency. Genetic mutations in the
respectively. The difference between the two groups was statistically significant metabolism and function of Vitamin D is a rarer cause of rickets.
(PZ0.015). Significant correlation was found between the vitamin D levels of Case report
mothers’ venous blood and cord blood samples (rZ0.410, P!0.001). When A16 month old male presented with bilateral clavicular swelling, constipation,
mothers were grouped depending on vitamin D supplementation, cord blood generalised weakness and poor growth. He also had delay in motor milestones and
vitamin D levels of babies of mothers receiving vitamin D were significantly high was only able to sit with support. He was born in the UK to consanguineous
(PZ0.004). Vitamin D levels in cord blood were deficient in 17.4% (nZ8), parents of Asian origin.
insufficient in 28.3% (nZ15) and sufficient in 54.3% (nZ25). Following neonatal Examination
vitamin D supplementation, it was determined deficiency in 2.2% (nZ1), Weight and height were on 2nd centile. He had frontal bossing, rachitic rosary,
insufficiency in 10.9% (nZ5) and sufficiency in 87% (nZ40). Vitamin D levels widened wrists and ankles, limited dentition. Investigations: Adjusted Calcium :
do not affect growth in the neonatal period. 1.17 (2.2–2.6 mmol/l), Phosphate 1.3 (0.9–1.8 mmol/l), ALP 2027 (60–425 U/l)
Conclusion and PTH 44.5 (1.95–8.49 pmol/l). Vitamin D – 62.4 (50–150 nmol/l). X-ray
Vitamin D supplementation in pregnancy affects cord blood vitamin D levels. showed severe rickets. Subsequent investigation results: 1,25-dihydroxyvitamin
After birth 400 U/day prophylactic vitamin D is sufficient to prevent vitamin D D undetectable – result consistent with 1a-hydroxylase deficiency. Genetic
deficiency even in those newborns of vitamin D deficient mothers. investigation showed mutation in the CYP27B1 confirming the diagnosis.
DOI: 10.1530/endoabs.66.P10 Management
Initially treated with calcium supplement and Alfacalcidol. Calcium was
gradually weaned off. He remains on Alfacalcidol. Follow up after 9 months:
Rickets has healed on X-ray. Calcium and PTH levels have normalised to
2.49 mmol/l and 5 pmol/l respectively.
Discussion
Vitamin D dependent rickets type 1, is an autosomal recessive disorder
P11 characterised by lack of 1-alpha hydroxylase enzyme. As a result, 25(OH)D
Hypercalcaemia as a presenting feature of sarcoidosis: the need for an cannot be converted to active form 1,25(OH)2D. It occurs as a result of mutations
open mind in the CYP27B1. Treatment is correction of initial hypocalcemia with Ca
Meera Mallya1, Usha Niranjan2, Beryl Adler2 & Nisha Nathwani2 supplements and active form of Vitamin D e.g. Alfacalcidol.
1 Summary
East and North Hertfordshire NHS Trust, Stevenage, UK; 2Luton and
Dunstable University Hospital, Luton, UK Vitamin D dependent rickets presents similarly to nutritional rickets.
† In nutritional rickets the measured vitamin D level is 25(OH) D is low, but in
VDDR1 it is normal or high as the genetic defects affects the 2nd hydroxylation
Sarcoidosis is a rare multisystem granulomatous disease that most commonly of vitamin D to active 1,25(OH)D.
affects the lungs and skin, and can also affect eyes and lymph glands. We describe † Routinely laboratories measure the inactive form, 25(OH)D.
an unusual case of sarcoidosis presenting with hypercalcemia, causing diagnostic † When there is a clinical picture of rickets, but the initial vitamin D result is
challenges. A 5year old boy was incidentally found to have asymptomatic normal, that is above 50 nmol/l, this excludes nutritional Rickets.

† In this case, it was key to liaise with Biochemistry laboratory to analyse 1,25 Case
(OH)D level. This then allowed clinicians to initiate appropriate treatment and A 5.5-year-old boy referred for hypercalcaemia in context of early sepsis and
initiate genetic investigation. background of Dynamin-1 gene mutation causing infantile epileptic encephalo-
DOI: 10.1530/endoabs.66.P12 pathy. He had been commenced on KD at 18 months of age for drug-resistant
seizures. A Deep Brain Stimulator (DBS) was inserted at 3 years for refractory
hyperkinetic movements. He has since had intermittent antibiotics for recurrent
DBS infections without systemic symptoms. There were no recent changes to
medications: sodium valproate, gabapentin, clobazam, clonidine, intravenous
flucloxacillin and azithromycin (Table 1).
Calcium was normal 6 months prior to presentation (2.57 mmol/l). Intermittent
P13 mild hypercalcaemia was noted over the last 12 months (highest 2.83 mmol/l).
Dental manifestations of vitamin D deficiency in adolescents ALP had been low for 3 years. Patient became unstable due to DBS infection,
Recep Orbak1, Yerda Ozkan1 & Zerrin Orbak2 managed surgically and with antibiotics. Hypercalcaemia persisted despite
1 hyperhydration and 2 pamindronate infusions. While serum calcium eventually
Ataturk University Dental Faculty Periodontology, Erzurum, Turkey;
2
Ataturk University Medical Faculty Pediatric Endocrinology, Erzurum, normalised after two weeks, hypercalcaemia recurred with hyperhydration
cessation. KD was gradually weaned and replaced with low calcium milk. Once
Turkey
KD was ceased, serum calcium normalized and remained normal after
hyperhydration was discontinued. PTH increased after one week to 73 ng/l.
Background Calcium was gradually re-introduced into his diet to 550 mg/day with no
Bone metabolism and development of teeth are under the influence of systemic recurrence of hypercalcaemia and normalization of PTH.
factors. Recent studies confirmed the close relationship between the oral tissues Conclusion
with the most prevalent systemic bone disorders in adolescents. This case suggests hypercalcaemia may occur years after KD commencement and
Objective and methods can be refractory to standard management. In this case, hypercalcaemia may have
This study employed a simple method to be easily reproducible: oral clinical been caused by the combination of long-term KD and sepsis with acute kidney
exam and radiographic evaluation. Eight patients were studied, 4 males, median injury. Despite clinical improvement, hypercalcaemia only resolved with
age of 15 years (12 to 17). cessation of KD.
Results DOI: 10.1530/endoabs.66.P14
Occlusion defects (62.5%), enamel hypoplasia (12.5 %) tooth rotations (37.5%),
diastemate due to frenulas (37.5%), congenitally missing teeth (12.5 %) and
enlarged pulp chambers in 37.5 % of the patients. We could not detect a
significant correlation between dental abnormalities and delayed treatment
(P>0.05). DMFT index for 12 to 17 years patients (n Z 8) showed that the oral
health is unsatisfactory (mean DMFT Z 5).
Conclusions
This study will help practitioners to integrate the oral health into the systemic
health and improve the multidisciplinary approach of pediatric patients between
medicine and dentistry.
P15
Not your typical rickets case
Rachel Beckett & Emmeline Heffernan
Royal Belfast Hospital for Sick Children, Belfast, UK
P14
Introduction
A novel case report of severe hypercalcaemia occurring after four years
on the ketogenic diet Rickets was once considered to be a disease of the Victorian Era but it has become
Jessica Sandy, Alessandra Cocca, Moira Cheung, Daniel Lumsden & increasingly common in recent years. The most common cause is Vitamin D
deficiency; however it is important to investigate for rarer causes if Vitamin D
Sophia Sakka
Evelina London Children’s Hospital, London, UK deficiency has been excluded.
Case report
A healthy, Caucasian 3 year old girl was referred due to bowing of her femora,
Hypercalcaemia has been previously described in association with ketogenic diet apparent since she started walking at 13 months. She was reported to be clumsy
(KD), occurring within 12 months of starting KD. We present a case where severe and tire easily. There was no history of fractures or leg pain. Her height had
hypercalcaemia occured after four years on KD. dropped from the 75th centile to between the 25th and 50th centiles.
Investigations showed mildly low corrected calcium and phosphate, slightly
raised alkaline phosphatase and a sufficient vitamin D level of 50 nmol/l. After 6
Table 1 Investigations on presentation. months of Vitamin D treatment, bowing had progressed and height had fallen
further so further investigations were performed including: urinary calcium:
Investigation Result Reference Range creatinine ratio (normal at 0.07) and urinary phosphate: creatinine ratio (elevated
at 4.36). Tubular reabsorption of phosphate was reduced in keeping with a
Corrected calcium 4.07 (High) 2.19–2.69 mmol/l
diagnosis of hypophosphataemic rickets. This was confirmed by detection of a
Phosphate 1.7 1.0–1.9 mmol/l
mutation in the PHEX gene. Skeletal survey showed lower limb abnormalities
Alkaline phosphatase (ALP) 99 (Low) 139–347 IU/l
and renal ultrasound excluded nephrocalcinosis. She was treated with oral
Parathyroid hormone (PTH) 6 (Low) 10–65 ng/l
phosphate supplements and alfacalcidol, resulting in improved growth and was
Magnesium 0.9 0.65–1.05 mmol/l
subsequently diagnosed with moderate sensorineural hearing loss, another feature
Creatinine 73 (High) 24–45 umol/l
of hypophosphataemic rickets.
Vitamin D 84 O50 nmol/l
Conclusion
PTH-related protein !1.40 !1.40 pmol/l
Rickets is a disorder of the growth plate, due to inadequate supply of phosphate to
Urine Calcium:Creatinine Ratio 1.3 (High) 0.05–0.60
growing bones. Mutations in the PHEX gene cause increased levels of fibroblast
Vitamin B6 70.1 35.2–110.1 nmol/l
growth factor 23 (FGF23), resulting in reduced absorption of phosphate in the
1,25 Vitamin D 24 48–192 pmol/l
proximal renal tubule. It is the most common form of hereditary rickets, and
Chest/hand/wrist Xrays Low bone mineral
usually presents before 2 years. The key feature is significant phosphaturia
density, other-
(calculated by TmP/GFR). Patients are at increased risk of dental complications,
wise normal
enthesopathy, lumbar lordosis and hearing impairment. Phosphate supplements
Renal Ultrasound Nephrocalcinosis
replace renal losses and calcitriol increases phosphate absorption from the gut and
Full Blood Count Normal
reduces PTH, preventing nephrocalcinosis. A new treatment, Burosumabw is a
Thyroid Function Tests
monoclonal IgG1 antibody that binds excess FGF23.
Electrolytes
DEXA scan DOI: 10.1530/endoabs.66.P15

Diabetes 1 † Complete before and after questionnaires regarding diabetes knowledge to

assess learning.
P16 † Complete ‘All About Me’ forms gathering personal information such as family
Improving the rate of completion of 7 care processes at a busy district support, likes and dislikes, social and educational needs and dietary
general hospital by using quality improvement methodology requirements that can be shared with the ward housekeeper.
Ahmed Kassab, Sanjay Rawal, Birgit Van Meijgaarden, Shahida Ahmed, † Help download useful technology such as Diasend and Freestyle libre,
Ruth Francks, Lynn White, Elizabeth Daniel & Laura Hunt encouraging this regularly.
Basildon and Thurrock University Hospital NHS Foundation Trust, † Share observations from parents and young people with the MDT.
Basildon, UK † Advise on Diabetes charities/on-line resources and provide guidance on
applying for disability living allowances.
† Fund a mini library of useful Diabetes textbooks
Background † Provide information regarding social, education and information days local and
The NPDA has been providing annual audit reports to paediatric units in UK from wider
2003 and a compliance report for 7 care processes since 2016–2017. Over the † Complete before/after and patient experience questionnaires.
years the focus on the type of data and implications of data has changed and † Explain Access Arrangements and Special Consideration for SATS, GCSES
become more focused especially after introduction of BPT and PEER review. The and A ’level examinations.
paediatric diabetes services at Basildon and Thurrock University Hospitals Results
(BTUH) were identified as negative outliers in 2016–2017 NPDA report. A QI We have an abundance of quotes and very positive graphical/pictorial data from
programme was undertaken to improve care of diabetes patients 0–19 years at clinical staff, young people and parents.
BTUH from November 2017 till April 2019. The paediatric diabetes team at Conclusion
BTUH is caring for around 220 patients with type 1 diabetes. Every parent, young person and member of the MDT interviewed, deemed the
Methodology hospital school a vital resource in providing structure, information and guidance
The team started a QI project in November 2017 spanning over 18 months. After during planned admissions. Their teaching expertise helps immensely in both the
BTUH paediatric diabetic team received outlier status, the team took part in the teaching and the assessment of learning. Hospital Schools can make admissions
RCPCH QI pilot initiative. We used learned QI techniques including pathway seem more planned, timetabling the week. They also introduce additional
mapping exercise, driver diagram and PDSA cycles to implement several small watchers, leading to more effective overall care, which can lead to shorter stays,
changes. The clinic proforma was tailored to capture NPDA requirements and reductions in emergency admissions and subsequent savings of hospital funds.
practical training sessions were organised for admin staff for accurate input of
seven care processes data onto Twinkle. The default reminder letters were DOI: 10.1530/endoabs.66.P17
designed for patients who did not have their annual review bloods and other
investigations performed. The live NPDA data was shared with team in MDT
meetings and adjustments were made wherever necessary to improve data capture
and recording.
Results
The changes implemented have shown significant improvements in seven care
process completion rates. The Retinal screening improved from 55 to 82%, the
albumin creatinine ratio increased from 24 to 72%, the foot examination increased
from 65 to 80% and the TSH increased from 66 to 74%. The overall median P18
HbA1c improved from 66 to 60 mmol/mol. The percentage of children who
Botswana children and young people with diabetes partnership project
received all the seven care elements increased from 15% in 2016–2017 to 56% in
Frances Nelson1,2, Kate Wilson2 & Matthew Williams2
2018–2019. 1
Conclusion West Suffolk Hospital, Bury St Edmunds, UK; 2East of England Children
The implementation of skills learned at RCPCH QI pilot have shown and Young People’s Diabetes Network, Cambridge, UK
improvements in completion of 7 care processes. The key to success was to
work together as cohesive team and to have ability to review our progress with Introduction
regular ‘live’ data. In April 2019 a team of healthcare professionals took a group of young people
DOI: 10.1530/endoabs.66.P16 with type 1 Diabetes to Botswana for a healthcare partnership project with
Diabetes Botswana. The trip included a joint diabetes youth camp and the
delivery of Botswana’s first ever Diabetes Educational Symposium.
Objectives
The primary aim of the project was to provide a reciprocal learning experience for
the management of type 1 diabetes for healthcare professionals across Botswana.
The secondary aim was to develop a partnership between British and Batswana
health care professionals and young people leading to shared knowledge, peer
mentorship and an ongoing healthcare relationship.
Description
P17 A team of young people and staff were selected through an application process.
The team consisted of 12 young people from 15 to 19 years old with type 1
The hospital school as a resource for supporting children with type 1 diabetes. The staff team was made up of the diabetes network manager, 9
diabetes during planned admissions healthcare professionals, 1 parent and 1 volunteer. The team attended a camp run
Victoria Dublon, Steve Green, Malvina Benitez-castillo, Gabrielle Colman, by Diabetes Botswana, this provided the opportunity to spend time with Batswana
Jade Ambridge & Ruhina Ladha young people with type 1 diabetes. The camp included education sessions and a
Royal Free Hospital, London, UK time of reflection and discussion. The young people found this an enriching
experience and enjoyed meeting people from a different culture who had a shared
Introduction understanding of living as a young person with type 1 diabetes. The Diabetes
Hospital schools can provide structure and learning for young people throughout a Educational Symposium was a 3 day educational meeting. The opening ceremony
planned admission. With guidance, teachers can be a vital resource for assessing was attended by the British High Commissioner and the Minister of Health and
the numeracy and literacy skills essential in the management of diabetes. They Wellness for Botswana. The Batswana and British young people spoke about life
can also provide a source of valuable pastoral and organisational expertise useful with type 1 diabetes. The symposium consisted of plenary sessions and small
to the diabetes multidisciplinary team (MDT). group teaching. Each British healthcare professional was joined by a Batswana
Method healthcare professional to assist with group facilitation and application to local
School teaching, pastoral and planning skills can be used to help with the practice. The symposium was attended by over 150 healthcare professionals from
following: all over Botswana.
† Co-produce an MDT timetable of appointments before the admission. Conclusion
† Dyslexia and Dyscalculia screening to gauge whether young people have the The partnership project met its aims and objectives and has paved the way for a
necessary skills to understand carb counting, insulin ratios and correction longterm relationship and future educational events between our regional diabetes
doses. network and Diabetes Botswana.
† Send work requests to home schools and share information to ensure no child DOI: 10.1530/endoabs.66.P18
falls behind or is forgotten.

P19 3) Limitations of physical ability, particularly reduced hand dexterity, effecting

Diasend download data and relation to diabetes control in a tertiary ability to provide her own diabetes care and resulting in reliance on others.
clinic cohort This lack of autonomy had led to emotional difficulties especially around
Susan Muniu1,2, Chloe Biss2, Ruth E Krone2, Tim Barret2, John Pemberton2, school.
4) Language barriers due to relocation for care of her RDEB, which has made
Lesley Drummond2 & Melanie Kershaw2 relationships between healthcare centres and recognition of the patient and her
1
University Hospital of North midlands, Stoke-on-trent, UK; 2Birmingham family’s diabetes knowledge more complex. This has impacted on the treating
Children’s Hospital, Birmingham, UK diabetes team deciding the best course of treatment in her condition.
In addition, there are deep psycho-social implications of this life limiting
Our large tertiary hospital-based diabetes service high HbA1c policy selects condition combined with the new diagnosis of T1DM.
Children and Young People (CYP) with HbA1c above 64 mmol/mol for Discussion
additional support. Two-week average blood glucose (ABG) is utilised in the This particular case highlights the complexities of management of a patient with
high HbA1c clinic as a proxy for HbA1c and CYP are encouraged to reduce their T1DM and a severe dermatological condition. Discussion around this case helps
2 week ABG as a primary goal. to highlight those aspects of care that can best support patients, families and
Aims healthcare professions in caring for these patients.
To determine the relationship between HbA1c, 2 week and 3 month ABG and DOI: 10.1530/endoabs.66.P20
standard deviation (S.D.) in CYP with Type 1 Diabetes (T1DM) in our cohort and
to identify related factors with the potential to improve control.
Method
Diasend downloads between 1/11/17 to 31/8/18 related to clinic visits were
analysed for 1 in 3 randomly selected patients with T1DM greater than 12 months
duration, aged 1–18 years, for correlation of 2 week and 3-month ABG, S.D., test
frequency and bolus advisor use with clinic visit HbA1c and therapy.
Results
95 randomly selected downloads of 349 CYP with T1DM were analysed. Bolus
calculators were used by 85 (89%) with 53/85 (62%) entering at least 3
carbohydrate containing meals or snacks per day and 31/95 (33%) using CSII. P21
Correlation with HbA1c was greater for 3 month ABG vs 2 week ABG (RZ0.58
Will informing patients with diabetes about their care processes results
vs 0.44) and for patients performing 5 or more tests per day (RZ0.78 vs 0.46).
help improve care processes completion rates? An innovative project
Blood glucose S.D. ! 4 mmol, achieved by 22/95 (23%), was significantly
Muhammad Javed, Shivnash Patel & Bashir Muhammad
associated with both improved HbA1c 51.9 vs 68.3 mmol/mol (P!0.00001) and
lower 3 month average BG. Walsall Healthcare NHS Trust, Walsall, UK
Discussion
Our unit will continue to specify that reviewing and reducing the 2 week ABG is Evidence suggests that empowering patients of chronic illness with self-
the short term interval goal to facilitate improved control. However, CYP will be management skills improves the outcomes. European countries with high
informed the 3 month ABG is more representative of the HbA1c to be expected in emphasis on diabetes self-management education report significantly better
clinic, to avoid disappointment, and predictive accuracy of ABG is improved clinical outcomes. In PREM survey, few service users expressed the desire to
when at least 5 BG tests are taken each day. The team will focus on strategies to know the results of their annual review blood results. We used this as a trigger for
educate and support CYP to understand and reduce the blood glucose S.D. to a project to inform service users about their annual care processes completion
below 4 mmol/l as a means to further improve control and outcomes. status. We describe the project and its progress below.
DOI: 10.1530/endoabs.66.P19 Materials and methods
We designed a standard format for an Annual Review Letter. The letter contained
three pages. The opening page listed all annual care processes with explanation of
each care process and its importance. The second page listed all HbA1c values of
individual patient for that year with a custom colour coded HbA1c chart. This
page also listed completion status/results of other care processes with
individualised comments entered by a clinician. Third page suggested goals for
that patient to work on in the next year of care. The content and design of the letter
was reviewed by service users through Patients Relations Team and their
suggestions were incorporated in final design. Generating these letters manually
for all patients was felt to be time consuming and difficult considering wide
P20 variation in IT skills in our team. Therefore, a semi-automated process was
developed. Data was downloaded from diabetes database in the form of three MS
Identifying barriers and solutions to the optimal management of a Excel sheets and fed into a custom developed Microsoft Excel workbook with
patient with T1DM and a severe life limiting dermatological condition advanced formulas to generate the letter including the graph and get it ready for
Nimasha Wijesinghe, Samantha Drew, Annaruby Cunjamalay, comments input by clinician. This workbook can be re-used by pasting new data
Sasha R Howard, Rakesh Amin & Catherine Peters next year. The letters were printed in colour and sent to all patients by post. We
Great Ormond Street Hospital, London, UK used Microsoft Teams and Planner to coordinate and monitor the project.
Result and conclusion
The project was completed by sending out annual review letters to all patients in
Background
the service (nZ143). We shall launch a survey after 2 months to seek formal
We present a case of a 10 year old female with T1DM, referred to our tertiary
feedback from patients/parents on this project. We shall evaluate impact of this
centre for complex diabetes care due to her other severe chronic dermatological
project on care process completion rates in next NPDA cycle.
condition. We discuss the difficulties with optimizing diabetes control in such a
chronic debilitating condition which has a pervasive effect on T1DM treatment. DOI: 10.1530/endoabs.66.P21
Case
To our knowledge this is only the second reported case of a child with T1DM and
Epidermolysis Bullosa. Severe Recessive Dystrophic Epidermolysis Bullosa
(RDEB) is characterized by a lack of adhesion under the basement membrane of
the skin, leading to blisters which heal with scarring, contraction of the joints,
fusion of the fingers and toes, contraction of the mouth membranes and narrowing
of the oesophagus. Additionally, RDEB patients have a high chance of developing
squamous cell carcinoma. The particular issues that have arisen in relation to
T1DM care include:
1) Poor skin integrity affecting insulin administration and glucose monitoring
(including both continuous and sporadic testing).
P22
2) Pain for multiple reasons; In particular, pain on swallowing due to oesophageal Group outpatient clinics for children and young people with type 2
strictures which in turn lead to variation in oral intake and reliance on diabetes: a service evaluation
gastrostomy feeds. This impacts on carbohydrate counting, carbohydrate ratios Catherine Tapping
and overall effectiveness of insulin requirements/absorption. The Hillingdon Hospital NHS Foundation Trust, Uxbridge, UK

Introduction compared to 33% in group 3. In SW London, only 1/7 diabetes units did not
Youth-onset type 2 diabetes is an emerging public health crisis with a more receive BPT for 16–19 year olds. 6/7 units used BPT to finance their transition
aggressive phenotype than both adult-onset type 2 and child-onset type 1 diabetes. service and 57% (4/7) thought it ran well. The diabetes units were well resourced
Family-focused, lifestyle intervention provided by a multidisciplinary team is with 71% having at least 4 team members in clinic, and 43% started transition
central to effective management. Group clinics were introduced for all paediatric preparation at 11–12 years. The single unit that did not finance their transition
patients with type 2 diabetes. A service evaluation assessed the clinical impact service using BPT were dissatisfied with it.
and effectiveness of this innovative approach. Conclusion
Methods The diabetes units which used BPT to finance transition, were more satisfied with
All patients, aged 11–17 years, with type 2 diabetes were offered four group their service, which was better resourced, and they initiated transition preparation
clinics instead of individual appointments, over a 1-year period. There were 12 at a younger age. With uncertainty regarding the future of diabetes BPT,
participants and all immediate family were encouraged to attend. Clinic consisted allocating funds from BPT to develop and adequately resource the transition
of routine biomedical measurements, a 1-h group education session and a 10-min service should be given important consideration.
individual review. HbA1c, waist circumference and age-gender related BMI DOI: 10.1530/endoabs.66.P23
centile were measured at each appointment. Patient and parent satisfaction was
assessed using mixed-methods questionnaires and attendance rates analysed.
Results
Complete HbA1c data (n Z11) demonstrated a statistically insignificant rise
(P Z 0.53). Median HbA1c increased from 44 mmol/mol to 48 mmol/mol over
the 1-year. Age-gender related BMI remained static on the 99th centile. Waist
circumference data (n Z 8) showed a statistically insignificant rise (P Z 0.09).
Combined patient/parent Likert-scale feedback was positive on all aspects of
group clinic: structure, experience, content and lifestyle changes. 92% of
respondents would recommend group clinic, however 54% would prefer an
individual appointment. Attendance rates were 59.6%, compared to 78.7% for the
previous year of individual appointments (P Z 0.127). No patient attended all Diabetes 2
four appointments and an inverse correlation was identified between length of
diagnosis and attendance rates. P24
Conclusions Characterizing putative mutant variants of monogenic diabetes
There was no statistically significant rise is HbA1c or waist circumference. Helena Brezovjakova1,2, Laura Mueller2 & Francesca Spagnoli2
1
Extrinsic factors such as increased insulin resistance and other challenges of Imperial College School of Medicine, London, UK; 2King’s College
adolescence rather than clinic approach may have prevented improvement. Poor London Centre for Stem Cells & Regenerative Medicine, London, UK
attendance may also have limited the impact of the group clinic. Questionnaire
responses were predominantly positive towards the group clinic and participants
reported learning more nonetheless, most would prefer individual appointments. Diabetes mellitus is a disease with one of the greatest burdens to both the
Overall, the group clinic delivered increased multidisciplinary, family focussed, economy and the individual. Monogenic diabetes mellitus, responsible for
lifestyle intervention and peer support, without increasing workload or having a neonatal diabetes mellitus and maturity-onset diabetes of the young (MODY),
statistically significant negative impact on biomedical outcomes. results from one mutation in a single gene. Many of these genes play a role in
DOI: 10.1530/endoabs.66.P22 pancreatic development and their variants can increase risk of type 2 diabetes
mellitus (T2DM). Therefore, while the monogenic form of diabetes contributes
the least to the overall disease burden, its study can both bring insight into the
pathogenesis of polygenic T2DM and advance ß-cell differentiation protocols by
improving knowledge of pancreatic development. Previously, novel mutant
variants of numerous genes have been identified in a cohort of patients with non-
autoimmune puberty-onset diabetes of unknown pathogenesis (strongly sugges-
tive of monogenic diabetes). Two of these genes, an epigenetic modulator (two
mutants studied) and a zinc-finger protein (one mutant studied), have been
evaluated in silico for the likelihood of causing a deleterious outcome in vivo, yet
their exact phenotype remains unknown. Over-expression of human wild-type
P23 and mutant variants of these genes was achieved by electroporation of MIN6
Different financial models employed by diabetes transition units within murine insulinoma cell line with the respective plasmids. Our findings reveal
Yorkshire and South West London’s Children and Young People’s dysregulation of pancreatic gene expression following mutant transfection.
(CYP) networks Specifically, both of the studied epigenetic modulator mutants showed down-
Xanthippi Tseretopoulou1, Christina Wei2 & Amanda Peacock3 regulation of Insulin, MafA, and Isl1. This suggests a potential mechanism of
1
Harrogate and District NHS Foundation Trust, Yorkshire, Harrogate, UK; ß-cell physiology disruption in the individuals carrying these mutant variants and
2
St George’s University Hospital NHS Foundation Trust, London, UK; hence the importance of this epigenetic modulator in endocrine pancreas.
3
Harrogate and District NHS Foundation Trust, Harrogate, UK Similarly, the zinc-finger mutant showed dysregulation of pancreatic gene
expression, particularly it caused reduction in Chga, NeuroD1, and Mafa, all of
which are crucial for ß-cell function. This indicates the zinc finger mutant
Introduction identified in the patient cohort might be a loss-of-function mutation, leading to an
The ultimate goal of a diabetes transition service is to provide coordinated, impaired mature ß-cell differentiation state. Together, these experiments suggest
uninterrupted and developmentally appropriate healthcare, which promotes skills their role as putative mutant variants leading to monogenic diabetes. Future work
in decision-making, communication, autonomy, and self-care, with an essential will aim to replicate these mutations in human induced pluripotent stem cell line
component required to achieve this, being adequate resourcing. and study them in small rodents to further decipher their phenotype.
Methods DOI: 10.1530/endoabs.66.P24
Data from Yorkshire and South West London CYP diabetes networks were
collected via questionnaire. The primary focus was to ascertain which diabetes
units used Best Practice Tariff (BPT) to finance their transition service, and
whether this correlated with a better resourced and more efficient transition
service.
Results
Responses were received from 15/16 units in Yorkshire, and 7/11 in SW London.
Within Yorkshire, 2/16 units did not receive BPT for 16–19 years. 7/16 units
financed their transition service using BPT (group 1), 2/16 did not use BPT and
had a reciprocal (goodwill) agreement with adult services (group 2), and 6/16 did
not use BPT and financed their transition service from adult resources (group 3).
All units in group 1 commented that transition services ran well and were well-
P25
resourced, having at least 4 team members in clinic, compared to 10/16 in group Modifiable dietary factors and a case for tracking dietetic outcomes in
3, which was less well-resourced, having at least 3 team members in clinic. Group the National Paediatric Diabetes Audit
2 were not satisfied with their transition service. Transition preparation was Lucia Martinez de la Escalera
initiated at a younger age in group 1 (43% started transition at 11–12 years) University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK

Children and young people (CYP) with Type 1 Diabetes who maintain a healthy Our cases reinforce the need to conduct ocular screening from diagnosis of
BMI, diet and accurate carbohydrate-counting have lower risk of cardiovascular diabetes, and to consider diabetes in any young person presenting with cataracts.
disease and diabetes complications. The tracking of key Diabetes health checks DOI: 10.1530/endoabs.66.P26
and outcomes via the National Paediatric Diabetes Audit (NPDA) has been
successful in ensuring year-on-year improvement of national average HbA1c.
Aside from BMI however, Dietetic-specific outcomes are not currently included
in the NPDA. Therefore, the present audit designed and trialled 5 Dietetic
outcome measures which can be used to track adherence to dietary management
goals (as per 2015 NICE guidelines for Paediatric Type 1 Diabetes) year on year.
These outcomes are: 1) Daily serves of fruit, 2) Daily serves of vegetables, 3)
Daily serves of ultra-processed and discretionary foods, 4) meeting Calcium
requirements, 5) main carbohydrate-counting method used. Baseline data for P27
these outcomes were collected through a standard Dietitian-led questionnaire at
each patient’s annual Dietetic review during the last full financial year (April
Observational Study looking at the Impact of changing from novorapid
2018–March 2019). Latest HbA1c and BMI centile at the time of the Dietetic to insulin aspart on glycaemic control in the clinic setting
review were also collected. The cohort comprised 107 patients with type 1
Vipan Datta, Ravi Alanoor, Faye Stubbs & Emma Webb
diabetes, aged 2–18 years who attended their Dietetic annual review at a Norfolk and Norwich University Hospital, Norwich, UK
UK-based Paediatric Diabetes unit. Gathering of baseline Dietetic outcomes for
the whole patient cohort provided key insights into Dietary trends and problem Introduction
areas. Only 6% of CYP meet minimum recommendations for daily vegetable
The first multi-center randomised trial looking at the efficacy and safety of Insulin
intake (3 serves), whilst 46% meet daily fruit recommendations (2 serves). Ultra- Aspart, a faster acting insulin which aims to mimic endogenous prandial
processed foods appear to replace daily vegetables for the majority of CYP, with
insulin action, was published in May 2019. We report our experience of using
75% of cohort significantly exceeding recommended limits (0–1 serves per day). Insulin Aspart in the Norfolk and Norwich University Hospital children’s diabetes
Indeed, 50% of CYP interviewed reported 3 or more ultra-processed foods per
clinic.
day. Calcium requirements were met by just over half (55%) of children. Finally,
Methods
CYP who reported using weighing scales regularly displayed significantly lower Children and young people with type 1 diabetes seen the Norfolk and Norwich
average HbA1c (60 mmol/mol) compared to those who relied on pictorial tools
paediatric diabetes service (total patient population aged 0–19 years 289
(71 mmol/mol) or guessing (78 mmol/mol). In conclusion, Dietetic outcomes are individuals) were invited to change from Novorapid to Insulin Aspart between
valuable monitoring tools which highlight specific problem areas in need of
May and September 2017. Consent was taken from patients and their families for
addressing, and inclusion in the NPDA. the unlicensed use of Insulin Aspart. Data including point of care HbA1C
DOI: 10.1530/endoabs.66.P25 mmol/mol, percentage time in target (4–9 mmol/l) and percentage time below
target (!4 mmol/l) was collected as part of routine clinic follow up.
Results
Forty-eight children and adolescents (25 male) with type 1 diabetes aged a median
of 11.3 years (standard deviation 3.8 years) elected to change to Insulin Aspart.
Median time since diagnosis was 3.9 years (range 1–14 years). To make decisions
regarding insulin therapy twelve children used DEXCOM CGMS, twenty Libre
FGM and sixteen blood glucose testing strips. HbA1C was 58.4 mmol/mol at
baseline (S.D. 9.5), and 58.9 mmol/mol (S.D. 11.4) at 9 months (PZ0.8). In
patients using DEXCOM/CGMS, time in target was 51.5% at baseline and 47%
(PZ0.8) at 9 months and time below target was 6% at baseline and 5% (PZ0.8)
at 9 months. Anecdotally patients reported that contrary to expectations Insulin
P26 Aspart needed to be administered 15–20 min prior to food to manage the post
prandial rise. Six children stopped Insulin Aspart during the 1.5 year follow up
Two cases of bilateral cataracts in early type 1 diabetes period. One individual stopped insulin Aspart due to the development of severe
Alice Lelliott, Supriyo Basu & Rachel Besser lipodystrophy after 18 months of treatment, one developed a localised allergic
Paediatric Diabetes and Endocrinology, Oxford University Hospitals NHS rash and one reported frequent cannula blockages.
Trust, Oxford, UK Conclusion
Overall Insulin Aspart was well tolerated. We saw no significant difference in
HbA1C in the patients on Aspart with no significant improvement in time
Introduction
in/below target. Further data should be collected with regard to the optimal timing
Cataract development as a complication of diabetes is usually associated with
of Insulin Aspart in relation to meal times.
increased age and longer duration of diabetes. However, rapidly progressive
cataracts have also been described at, or soon after, diagnosis of type 1 diabetes DOI: 10.1530/endoabs.66.P27
(T1DM). We report two cases of adolescents with T1DM and bilateral cataracts,
including one case in which visual loss was the presenting symptom.
Cases
A 16-year old non-obese, caucasian boy presented to his GP with acute bilateral
visual loss. He described increasingly blurred vision in his left eye for three weeks
and had noticed similarly blurred vision in his right eye that morning. He also
reported tiredness and new-onset nocturia for approximately a month, although he
denied polydipsia or weight loss. Blood glucose was 26 mmol/l and ketones were
2.6 mmol/l, leading to a diagnosis of T1DM. His HbA1c was 149 mmol/mol at
diagnosis. Ophthalmologic examination demonstrated bilateral dense posterior
subcapsular cataracts; the left cataract was visible with the naked eye. He P28
underwent sequential bilateral cataract removal within two weeks of diagnosis Using quality improvement (QI) to improve the care pathway and
due to severely impaired vision, with good outcome. A 13-year old non-obese, outcomes for children newly diagnosed with type I diabetes mellitus
caucasian girl had a one-year history of T1DM, treated with a basal bolus insulin Edward Coxson1, Clare Edmonds1, Lynn Diskin1, Gillian Purcell1,
regimen. She saw her community optician due to visual glare and was referred to Hannah Kyprios1, Hayley Carter1, Rey Fong1, Vineeta Gupta1,
the ophthalmology clinic where she was diagnosed with bilateral early cataracts. Karen Bradshaw1,2, Clare Vass1, Laura Bird1, Anna Zatchij1 &
Her symptoms progressed quickly, and within a month her vision had Helen Edwards1
significantly worsened . She underwent sequential bilateral cataract removal 1
Royal United Hospital Bath NHS Foundation Trust, Bath, UK; 2Helen,
which restored her vision to normal. Edwards, UK
Discussion and learning points
Cataracts in early type 1 diabetes are rare, with an incidence of less than 1%. The
pathogenesis of cataracts in diabetes is not fully understood; likely mechanisms Background
include osmotic stress from sorbitol accumulation in the lens, oxidative stress, and Early glycaemic control improves long-term outcomes in children with Type I
glycation of lens proteins. Previous literature suggests that early diabetic cataracts diabetes. The NICE target for children with T1DM is HbA1c % 48 mmol/mol.
are more common in adolescent females. Another postulated risk factor is a 2018 data from our newly diagnosed patients (pre-QI) demonstrated mean HbA1c
prolonged period of hyperglycaemia, such as prior to diagnosis in our first case. 50 mmol/mol at 3 months and 62 mmol/mol at 12 months.

Aims and methods iii) Diabetes transition website

Our aim is to improve average blood glucose levels at day 28 post diagnosis and † Developed website to provide reliable, accessible information for YP covering
achieve a median HbA1c of !48 mmol/mol at 3 and 12 months post diagnosis in transition, management of diabetes and various lifestyle topics such as
75% of our newly diagnosed patients by November 2020. exercise, alcohol, sex, smoking and education.
Drivers for improvement included: Results
1) Implementing Carbohydrate Counting and Expert meters at diagnosis of Type 1 year later, YP (nZ21) were asked to complete an anonymous questionnaire.
I diabetes. 70% reported that they had been spoken to about transition, 71% knew more
2) Intensive inpatient management with multiple insulin correction doses and about the adult service as a result and 85% valued having met the adult team.
overnight corrections. Patients frequently reported they wanted more opportunities to both meet the
3) Achieving blood glucose levels in target prior to discharge to emphasise the adult team and be seen alone.
importance of this to our families. Conclusion
4) Additional MDT clinic 6 weeks post diagnosis. The transition service changes, designed utilising patient voices, have been well
5) Setting up home downloading and Diasend accounts prior to discharge for new received by YP although further work is needed. To facilitate continual
patients. improvement, we plan to incorporate further valuable patient input from
We used Fishbone analysis to undertake a needs assessment for implementing additional focus groups, ongoing questionnaires and patient satisfaction surveys
carbohydrate counting and Expert meters at diagnosis. The main barriers were into service design.
ward staff training and communicating key changes to the wider paediatric team. DOI: 10.1530/endoabs.66.P29
‘Tea Trolley’ training and ‘Newly Diagnosed Packs’ helped facilitate change.
Outcome data on average blood levels, HbA1c, days to carbohydrate counting and
balancing measures including length of stay were collected.
Results
10 new patients have been managed along the new care pathway. Mean average
blood glucose at D28 post diagnosis has improved from 8.0 mmol to 5.9 mmol.
Mean HbA1c at 3 months post QI is now 45.9 mmol/mol (nZ7). Average length
of initial hospital stay increased from 3.2 to 4.3 days. All patients had the facility
to home download at discharge.
Lessons learnt
Weekly QI meetings and maintaining run charts of average blood glucose and
HbA1c for new patients has been a powerful team motivator. Working with other
teams in the National QI Collaborative has made us braver to implement change
and initial project results are encouraging. We are now using QI methodology to
improve clinic experience and education around download interpretation.
P30
Perceptions of multi-disciplinary team members and their roles: a
survey of 82 carers and patients
Allison Low, Lisa Whinfrey & Anuja Natarajan
Doncaster and Bassetlaw Teaching Hospitals NHS Foundation Trust,
Doncaster, UK
Background
Patients and carers encounter a range of diabetes multi-disciplinary team (MDT)
members. Patients in focus groups have indicated that nurses are more
approachable than doctors1, and the presence of specialist nurses in the MDT
improves glycaemic control2. Nurses are perceived to be the core providers of
diabetes care but this has not been quantified, nor have the perceived roles of other
P29 members of the MDT been explored.
Methods
Bridging the gap: a young person-centred diabetes transition service
In June 2019, an online survey was sent to the primary contact of all children with
Katherine Hawton1, Nwanneka N Sargant2, Claire Semple2, Tara Gardiner2,
diabetes in our centre. The ten-question survey examined the influence of
Sophie Rinn2, Sara Reynolds2, Megan Cole3 & Elizabeth Crowne2 different MDT members and the perceived roles of each member.
1
Royal United Hospital, Bath, UK; 2Bristol Royal Hospital for Children, Results
Bristol, UK; 3University Hospital Bristol NHS Foundation Trust, Bristol, Of 82 returned surveys, most (87%) were completed by a carer and 11% by the
UK child with diabetes (2% unanswered). Specialist nurses were reported to be the
most frequent point of contact by 95% of participants overall, but among patient
Introduction participants 22% reported the doctor as the most frequent contact. When listing
Within the Bristol diabetes service, we recognised that we were failing to meet the MDT members, nurses (98%), doctors (77%), dietitians (51%), and psychologists
needs of young people (YP), who reported feeling unprepared for transition and (34%) were most frequently named. Nurses were described as the most important
intimidated by the unknown entity of the adult service and changes in their source of support (85%) and help with diabetes control (73%). In the descriptive
diabetes management. section, participants had a varied understanding of the role of administrators,
Methods dietitians, and psychologists. Specialist nurses were strongly associated with
We set up a multi-disciplinary steering group, including the paediatric and adult being a first point of contact, helping with day to day issues, and ‘advice,’
diabetes teams and a youth involvement worker, to develop an effective, multi- ‘support’ and ‘help’ were frequently used to describe their role. Doctors were
faceted transition strategy. To enable patient-led service improvement, we sought associated with ‘control,’ ‘targets,’ and ‘HbA1c’ as well as oversight,
the opinion of YP with diabetes in a focus group (nZ5). Utilising focus group maintenance, and monitoring.
feedback, the following changes were established: Discussion
i) Introduction of age-banded clinics This is the first quantitative data confirming that participants perceive nurses to be
† In paediatric service – fortnightly YP’s clinics for over 14 years to transition, of primary importance in the MDT, despite some fluidity between the roles of
attended by an adult consultant or diabetes nurse specialist (DSN). doctor and nurse in practice. Disappointingly, administrators, dietitians, and
† In adult service – paediatric DSNs to start attending pre-existing monthly psychologists were less often listed as core members of the MDT and diabetes
young adult’s clinic from transition to 25 years. teams should work to actively promote their role. In addition, these results
† Patients over 14 years given the opportunity to be seen alone at every emphasise the continued need for medical staff to consider their patients
consultation. holistically and work in partnership with them.
ii) Transition paperwork References
† Introductory transition pack was developed, including an introductory letter 1. Hawthorne et al. The experiences of children....Diabetic Medicine.2011 Sep;
explaining the new clinics and service changes, a leaflet about transition, and 28(9): 1103–1108.
transition checklists for patients and parents to be discussed at clinic. 2. O’Hagan et al. Glycemic control...Diabetes Care.2010 Aug 1; 33(8): 1724–
† Checklists covered: a) education, b) lifestyle, c) access to support and services, 1726.
d) transition. DOI: 10.1530/endoabs.66.P30
† Additional copies of clinic letters sent to patients, not just parents.

P31 P33
Continuous glucose monitoring improves A1c, time in hypoglycaemia C-peptide and antibody testing to aid diabetes diagnosis in children and
and time spent in target range within the paediatric population young people
Tara Reeves & Suzanne El-Kholy Kathryn Cox & Louise Bath
University Hospital of North Durham, Durham, UK Royal Hospital for Sick Children, Edinburgh, UK
Objective Introduction
We aim to examine the effects of continuous glucose monitoring (CGM) within Recent experience of C-peptide testing in adults with longstanding diabetes has
our local population by means of pre- and post-CGM introduction A1C, time revealed misdiagnosis of monogenic diabetes as either type 1 or type 2 with
spent in hypoglycaemia and time spent within personalised target. important implications for quality of life and healthcare costs. Correct diagnosis
Methods earlier in life may be possible with the use of routine antibody testing at diagnosis
Retrospective study of the County Durham and Darlington Foundation Trust and c-peptide measurement 3 years after initial diagnosis. Negative or low titres
(CDDFT) patient group who use CGM was undertaken via the platform ‘twinkle’ for all 3 antibodies suggest non-type 1 diabetes. Persistence of detectable
and ‘diasend’. Results were graphed prior to statistical evaluation. Primary c-peptide beyond 3 years from diagnosis raises the possibility of non-type 1
outcome was change in HbA1c. diabetes
Results Methods
The primary outcome of A1c showed improvement from pre-CGM measurements All children and young people with type 1 diabetes known to the Royal Hospital
to post-CGM introduction. We also present data showing time spent in for Sick Children diabetes team underwent testing. C-peptide levels were
hypoglycaemia and time spent in personalised target which compares favourably measured at the time of annual review with paired serum glucose, and considered
to International data across adult and paediatric populations. positive if >50 pmol/l. Glucose >8 mmol/l required at time of testing to avoid
Conclusion false negative. Antibodies were measured at diagnosis, or at annual review
Use of continuous glucose monitoring locally has similar results to those in appointment for any patients in whom antibodies had not previously been
national adult trials. All parameters studied (A1c, time in hypoglycaemia, time checked. Cut-off values for positive results were GAD>5, IA2 >7.5 and ZnT8
within target) have improved within our local trust. Ongoing use remains >15.
recommended. Results
DOI: 10.1530/endoabs.66.P31 214 individuals aged !18y had c-peptide levels requested. Results were available
for 203 patients. Results were categorised as 1–3 years or >3 years since
diagnosis. 7 patients had persistent c-peptide at >3 years, of which 1 was
>200 pmol/l. 14 patients had persistent c-peptide at >3 years, of which 2 were
>200 pmol/l. 230 patients aged !16y had antibody testing. 72 tested for GAD &
IA2, 153 tested for GAD, IA2 & ZnT8, 5 tested for a single antibody. 45 patients
were single antibody positive. 12 patients were, of whom 2 had been diagnosed
less than 2 years. 1 triple antibody negative patient had undetectable c-peptide.
The other triple antibody negative patient had c-peptide of 170 pmol/l at 13
months since diagnosis, raising possibility of non type 1.
Conclusion
This study has identified a number of young people with persistent c-peptide
beyond 3 years from diagnosis. Negative antibody testing can guide future
Diabetes 3 investigation. We recommend measuring GAD, IA2 and ZnT8 antibodies in all
patients at diagnosis, and C-peptide at 3 years.
P32
Development of a live visual HbA1c dashboard to improve engagement
and clinical outcomes – a type 1 diabetes QI project
Qiong Wu, Cleo Huang, Bianca Parau & Saji Alexander
Department of Paediatric Endocrinology and Diabetes, Chelsea and
Westminster Hospital NHS Foundation Trust, London, UK
Introduction
An HbA1c target level of 48 mmol/mol or lower in children with type 1 diabetes
is recommended by the National Institute for Health and Care Excellence. Only
7.1% (national average 7.2%) of children in our unit achieved this target. In
response, during a multidisciplinary diabetes away day, we explored innovative
approaches to timely and efficient identification and intervention in patients with
high HbA1c levels. The National Paediatric Diabetes Audit web portal, at present,
does not allow a prospective dashboard function at a unit or individual patient P34
level. When one diagnosis just isn’t enough – diabetes as a first presentation of
Methods cystic fibrosis
We developed a free and user-friendly spreadsheet to record and analyse HbA1c Meera Mallya1, Gunjan Jain1 & Peter Winocour2
levels prospectively for every patient. ‘Sort’ and ‘chart’ functionalities were used 1
to make the data relevant for the unit and individual patients and parents. East and North Hertfordshire NHS Trust, Stevenage, UK; 2East and North
Results Herts Institute of Diabetes and Endocrinology (ENHIDE), Welwyn Garden
Our bespoke database serves as a visual HbA1c dashboard, where prospectively City, UK
inputted HbA1C levels are automatically ‘RAG’ rated, to effectively flag patients
with poor control. This database is utilised at fortnightly multidisciplinary Diabetes is a common presentation in children and young people. We describe a
diabetes meetings to quickly identify and discuss patients (2–3 children at each case of undiagnosed cystic fibrosis (CF), where diabetes was the presenting
meeting) with highest or worsening HbA1c levels and those who have missed diagnosis. A 14 year old girl presented with a 2-month history of weight loss,
their quarterly measurements. Moreover, each patient is able to see their HbA1c abdominal pain, polyuria and polydipsia. Blood glucose was 31.4 mmol/l with
temporal trend in clinic, as a bar chart, facilitating engagement. Ongoing work in ketones of 0.8 mmol/l, and a diagnosis of T1DM was made. Initial bloods showed
the second stage of this QI project include analysis of factors associated with poor HbA1c 150 mmol/mol, normal thyroid function, negative TTG, and negative
HbA1c control. We aim to devise patient-specific input from the multidisciplinary TPO, GAD and IA2 antibodies. Her HbA1c remained well controlled for the next
team to empower patients and parents. few years on MDI’s, at 42–51 mmol/mol. Recent urine C-peptide was
Conclusions 3.15 nmol/l, indicating preserved pancreatic beta-cell function 4 years after
We are keen to share how we have creatively utilised a simple and already- diagnosis of diabetes. At 16 years she noted that large meals caused diarrhoea and
available software on Trust computers to develop a patient-centred tool to she had a persistent cough. At 17 years she presented with haemoptysis, and
improve clinical outcomes and patient and parent engagement. We believe that reported 6 months of productive cough, requiring recurrent antibiotics, with a
this can be replicated in other units. 4-month history of weight loss. Chest X-ray suggested bronchiectatic changes and
DOI: 10.1530/endoabs.66.P32 a high-resolution CT confirmed widespread cylindrical and cystic bronchiectasis.
She was negative for HIV and TB, with a negative vasculitis screen and normal

alpha-1-antitrypsin levels. Her lung function tests were normal, with good levels continued to be high despite hyperhydation regime, low calcium diet and
exercise tolerance. A genetic screen showed homozygous 6F508del, confirming diuretics, hence received a dose of IV Pamidronate. She was treated with oral
the diagnosis of CF. Newborn screening for CF was fully introduced across the prednisolone for 3 months and her renal function and hypercalcaemia recovered
UK in 2007 and has helped in the early identification of children with CF. Most completely with no flare-ups in last 18 months. Even though our patient was
late onset (after 16 years) diagnoses of CF occur in people with compound diagnosed to have TINU, we could not explain raised ACE levels and significant
heterozygote mutations, the majority presenting with respiratory complications. hypercalcaemia. Our patient also had markedly raised 1,25 di-hydroxy vitamin D
To our knowledge there are three case reports of children with diabetes as the levels suggesting increased macrophage activation of 1-alpha hydroxylase
presenting feature of CF. We describe an unusual case of an adolescent with enzyme causing conversion of 25-OH vitamin D to active hormone. So we
homozygous 6F508del who presented initially with diabetes, before the suggest patient also had Sarcoidosis in spite of absence of granulomas in renal
respiratory manifestations of CF became apparent. In retrospect, respiratory biopsy.
and gastrointestinal symptoms were present previously. The lack of clear DOI: 10.1530/endoabs.66.P35
autoimmune features of T1DM should have raised the possibility of an alternative
form of diabetes. It is therefore important to consider the possible diagnosis of CF
in adolescents with diabetes who have associated respiratory or gastrointestinal
symptoms, and who may have missed newborn screening, particularly with
negative pancreatic beta-cell antibodies and high urine C-peptide.
P36
Using NPDA data for quality improvement: dedicated annual review
clinics are effective in increasing completion rates of health care
processes
Nihal Elbashir, Melanie Kershaw, Renuka Dias, Zainab Mohamed,
P35 Jan Idkowiak, Vrinda Saraff, Suma Uday, Tim Barrett & Ruth Krone
Department for Endocrinology & Diabetes, Birmingham Women’s &
Rare association of type 1 diabetes mellitus (T1DM) with
Children’s Hospital, Children’s Site, Birmingham, UK
tubulo-interstitial nephritis and uveitis (TINU) and hypercalcaemia
Tatyana Moshanova, Sonal Kapoor, Sudarshana De &
Premkumar Sundaram Introduction
University Hospitals of Leicester, Liecester, UK NICE recommends specific annual health checks for children and young people
(CYP) with diabetes aged 12 years and over to check for health of feet, kidneys,
thyroid and eyes in addition to BP, BMI and HbA1c. Historically, we included
Children and adolescents with Type 1 Diabetes Mellitus (T1DM) are at increased annual review care processes into regular diabetes multi-disciplinary clinics. In
risk for developing other autoimmune diseases. We are presenting this rare 2017, our service was identified as negative outlier in the National Paediatric
association of tubulo-interstitial nephritis and uveitis (TINU) with severe Diabetes Audit for completion of health care processes. In particular, completion
hypercalcaemia and type 1 DM. 12 years old girl, with Type 1 Diabetes for 5 rates for blood tests, urine analysis and foot examination were unsatisfactory. As
years presented with 4 months history of weight loss, abdominal pain, nausea, part of a wider quality improvement project, dedicated Annual Review Clinics
tiredness, anorexia and recurrent hypoglycaemias. Her HbA1c levels was (ARC) were developed and started in September 2018. ARC consist of three
38 mmol/mol (5.6%). She was also noted to have normocytic anaemia and separate 30 min appointments with nurse, dietitian and doctor; the clinic is run in
proteinuria. Further investigations showed a normal Synacthen test however urea the morning and located in close proximity to phlebotomy services. Specific ARC
and creatinine were elevated with significant hypercalcaemia. Subsequently, she templates for each profession were designed.
also developed bilateral granulomatous uveitis with topical steroids. There were Method
no chest symptoms or skin lesions. In view of hypercalcaemia, abnormal kidney Retrospective audit comparing completion rate of specific care processes (blood
functions and granulomatous uveitis she was investigated for Sarcoidosis. She test, urine analysis, foot exam) before and after introduction of a dedicated ARC.
had raised serum Angiotensin Converting Enzyme (ACE) levels. She had normal A total of 55 CYP aged 312 years attended the newly designed ARC between
chest X-ray and ultrasound abdomen. Renal biopsy revealed acute tubule- September 2018 and March 2019. Data on investigations (blood tests, urine
interstitial nephritis with no evidence of granulomas and giant cells. Her calcium analysis) and foot examination were collected from the laboratory database and
diabetes management system respectively. Completion rates of specific annual
review care processes for those CYP were compared with their individual
completion rates for the same care processes during the previous year.
Investigation Results Normal range Outcomes
Urea 12.8 2.5–6.5 mmo/l The rate of completion increased for all of the specific care processes. Almost
Creatinine 228 38–74 micromol/l 93% (51/55 CYP) had at least one of the assessments completed in the Annual
Haemoglobin 83 115–165 g/l Review Clinic compared to 70% (29/55) for the same group for the previous year.
Urine Protein creatinine ratio 337 0–30 mg/mmol The same CYP had much higher completion rates for the specific care processes
Calcium 3.48 2.2–2.6 mmol/l compared to the previous year (foot exam 87.2% vs 63.6%; blood test 87.2% vs
Phosphate 1.8 0.9–1 mmol/l 65.5%; urine analysis 81.8% vs 49%). More CYP had all seven recommended
Alkaline Phosphatase 130 60–425 iu/l care processes completed.
PTH !0.3 1.6–7.53 pmol/l Conclusion
25 OH vitamin D 98 O50 nmol/l A dedicated Annual Review Clinic is effective in ensuring CYP with diabetes
1,25 di-OH vitamin D O440 20–120 pmol/l receive recommended health care processes. Ongoing review of clinic processes
Urine calcium creatinine ratio 1.77 0–0.59 mmol/mmol is required to ensure completion rates improve further to maximise health.
ACE 103 8–52 U/l DOI: 10.1530/endoabs.66.P36

P37 (relapsed: nZ3; unknown: nZ1). Weight loss at remission was 8.0G3.3% and
Improving outcomes for young people with type 2 diabetes mellitus remains below baseline (7.6G4.2%, nZ7) compared to the non-remission group,
Kate Sharples, Nicky Moor, Elizabeth Nash, Margaret Murphy, who have gained weight (1.8G11.2%, nZ16). Patients who achieved remission
most commonly opted for healthy eating and lifestyle management. One patient
Yasmin Khatun, Evelien Gevers & Rathi Prasad followed a supervised very low-calorie diet (!800 kcal/day) for six weeks
Department of Paediatric Diabetes, Royal London Children’s Hospital, followed by introduction of regular balanced meals.
Barts Health NHS Trust, London, UK
Background Table 1 Characteristics of patients with T2DM at baseline, remission and

Our Paediatric Diabetes service has a challenging rise in proportion of patients present.
with Type 2 Diabetes Mellitus (T2DM); 8.5% of our current cohort; compared to
3.5% regionally and 2.5% nationally (NPDA 2017–2018). Remission Non-Remission P
Objectives N 9 25
Establish a T2DM New Diagnosis Pathway and T2DM clinics aiming to achieve Age (years) 15.5G0.8 14.7G2.0 0.08
HbA1c ! 48 mmol/mol for all new patients at 3 months and a year, with 10% Baseline BMI SDS 3.29G3.9 (nZ4) 3.37G3.8 (nZ10)
weight loss. Baseline HbA1C 77G29 74G28 0.82
Methods Remission BMI SDS 1.48G1.07 N/A
Patients diagnosed with T2DM since November 2018 are admitted for education/ Current BMI SDS 1.55G0.65 2.97G2.47
treatment according to the new pathway. Comorbidity screening is undertaken Current HbA1c 39G5 mmol/l 73G28 mmol/l
at diagnosis with psychology and dietetic screening of well-being/eating (nZ8) (nZ20)
behaviours. Patients have monthly MDT review for the first 3 months with
adjustment of treatment, diet/activity prescriptions and agreed goals. Patient
outcomes were compared with the preceding 6 patients.
Results Conclusions
Six patients were newly diagnosed with T2DM (mean HbA1c 78 mmol/mol; Remission is achieved in a minority of patients despite intensive input from
previous group mean 54 mmol/mol). HbA1c significantly improved at 3 months hospital teams. Patients who achieved remission maintain a lower HbA1c and
for both current and previous patients (mean HbA1c 44 and 42.5 mmol/mol BMI SDS in comparison to the non-remission group, even if they have
respectively), with no significant difference between groups. However, with the experienced a relapse. This demonstrates the importance and positive impact of
new pathway, a greater proportion achieved HbA1c !48 mmol/mol compared to weight loss, even if relapse occurs.
previous (80% vs 67%). A greater proportion had comorbidity screening at DOI: 10.1530/endoabs.66.P38
diagnosis, with improved profiling of lipids and sleep assessment (100% vs 67%
and 83% vs 0% respectively). In the previous group, 2/6 had evidence of fatty
liver disease and dyslipidaemia. In the current group 1/ 5 screened had evidence
of sleep disordered breathing. Median BMI Z score SDS was unchanged in the
previous group between diagnosis and 6 months (C2.8 SDS). In the current
patient group the median had improved to C2.4 SDS from C2.7. Overall
however the mean BMI Z score had not changed significantly from diagnosis to
6 months in either group. Additional outcomes included coordinated comorbidity P39
screening, reducing appointment burden. Specialised clinics have facilitated
recruitment to clinical trials. Wider impact of the service includes the initiation of Paediatric diabetic ketoacidosis (dka)-management in a
young people friendly local gym opening times. district general hospital
Conclusion Vidya Viswanath, Meera Mallya & Cristina Matei
The tailored T2DM pathway and clinics have improved the proportion of patients East and north Hertfordshire Trust, Stevenage, UK
achieving the target HBA1c at 3 months with a more holistic and streamlined
approach.
Background
DOI: 10.1530/endoabs.66.P37 Diabetic ketoacidosis (DKA) can have significant morbidity and mortality in
children and young people (CYP). Its management is very well standardised,
based on National Guidance (National Institute of Clinical Excellence – NICE).
In the UK, CYP DKA Guidelines have been reviewed in 2015 in order to reduce
the risks of cerebral oedema. There have been concerns that the new
recommended fluid management has the potential to increase the risk of acute
kidney injury (AKI) or other complications due to significantly reduced fluid
management volumes. In our Trust, the 16–18 year olds are managed by adult
physicians but based on CYP guidelines. We wanted to review the practice in our
P38 hospital and to establish our compliance and any deviations from the guidelines
and if there are any significant complications in our patients.
Remission rates, demographics and outcomes of paediatric patients
Methods
with type 2 diabetes at a single centre: 2006–2018
We looked at the notes, discharge letters and lab reports.
Elizabeth Procter, James Law, Jennifer Calvert & Pooja Sachdev
Results
Nottingham Children’s Hospital, Nottingham, UK Over 12 months (October 2017–September 2018) we had a total of 19 episodes
of DKA in 0–19 year old children. 3 episodes were of severe and 16 of
Background mild/moderate DKA. 12 patients received fluid boluses. In 15 cases the ongoing
Incidence of type 2 diabetes (T2DM) is increasing in children and young people fluid prescription was correct. In all patients insulin was started at least 1 hour
under the age of 18 years. This group has a higher risk of microvascular after the initial fluids were given. 8/19 (42%) of our DKA episodes occurred in
complications and a more adverse cardiovascular risk profile than those patients with known Type 1 Diabetes Melitus. The guideline was not
diagnosed later. Weight loss is essential for remission, but intensive input is appropriately used in 8/9 of over 16 year old episodes and 2/11 under 16 year
often required to achieve this. old episodes. 12/19 (63%) received fluid boluses. 2 patients with altered Glasgow
Aims Coma Scale (GCS-14/15) received fluid boluses. 2/18 patients were in mild AKI
1. Describe the demographics of our T2DM population at presentation and 1 was unknown.
2. Look at our remission rates Conclusions
Methods In our cohort the majority of patients received fluid boluses, despite this not being
Patients were identified from a local database of patients with T2DM. Their the recommended measure on the current guideline. DKA still occurs in patients
hospital records were reviewed to identify baseline characteristics, treatment, with known diabetes. Fluid management in DKA still remains a topic of some
progress and whether remission was achieved (nZ34). controversy. The British Society of Paediatric Endocrinology (BSPED) is
Results currently reviewing the fluid management recommendations. There is ongoing
Patients were most commonly female (38% male, 62% female), white (53% national interest and participation in this review. The 16- to 18-year-old patients
White, 35% Asian, 12% Black) and 75% had a family history of T2DM. could potentially be managed on adult protocols in the future.
Co-morbidities at baseline included polycystic ovary syndrome (nZ4) and DOI: 10.1530/endoabs.66.P39
hypertension (nZ7). Remission was achieved in nine and maintained in five

Diabetes 4 healthy lifestyle. In an adult with PWS, treatment with Glucagon-like peptide 1
(GLP-1) receptor agonist and analog has showed improvement in glycemic
P40 control.
Neonatal diabetes, Don’t sugar coat it! Conclusion
Sarah Murphy, Joanna Stevenson, Jennifer Mitchell, Harcharan Singh, Young person with type 2 diabetes is an evolving disorder in children, adolescents
Catherine Fiddes, Sarah Farquharson & Karen Whyte and young adults with distinctive challenges in both research and clinical care. To
Royal Hospital For Children, Glasgow, UK maintain the glycemic control in adolescents with PWS is an uphill task.
Background
Neonatal diabetes is an exceedingly rare condition, defined by the presence of
persistent hyperglycaemia in the first months of life. It is sub-categorised into
transient neonatal diabetes mellitus (TNDM) which resolves early and permanent
neonatal diabetes mellitus (PNDM), which requires lifelong treatment. Transient
neonatal diabetes is reported to have a global incidence of between 1/95 000–
1/400 000 births. At present, there are less than 100 patients diagnosed with
neonatal diabetes in the UK. The infant we describe was born at 39C3 weeks
gestation and delivered via spontaneous vaginal delivery. She had a low birth P42
weight of 2.28 kg and was asymmetrically growth restricted. She had Newly diagnosed diabetes – incidence, presenting features and lessons
hypoglycaemia monitoring which was normal and was discharged home on day learnt
3 of life. She was reviewed in the community by the midwife on day 5 with a Meera Mallya, Vidya Viswanath & Cristina Matei
16.6% weight loss and was found to be emaciated on examination. Her blood East and North Hertfordshire NHS Trust, Stevenage, UK
glucose was 37.8 mmol/l and her cortisol level was 200 nmol/l. Her C-Peptide
level was ! 0.10. She initially received intravenous insulin (requiring doses of
0.02–0.05 iu) with frequent adjustment of insulin dose required due to Introduction
challenging glycemic control. After a period of adequate weight gain she was The incidence of type 1 diabetes (T1DM) is increasing, affecting approximately 1
commenced on insulin via a subcutaneous pump which subsequently allowed her in 500 children and young people (CYP) under 19 years of age. The diagnosis of
to transition to general paediatric care prior to discharge home. She had an diabetes, as well as initial investigations and management is standardised, based
echocardiogram which demonstrated a structurally normal heart and cranial on national guidance. Initial education and management have huge importance
ultrasound scan which was normal. Of note, there was a finding of a hemivertebra for long-term glycaemic control. We review the practice in our hospital, to
at T3 on chest x-ray and a finding of a conjugated hyperbilirubinaemia from birth, establish our compliance and any deviations from the guidelines. We also look at
which slowly improved, with investigations for cholestasis unremarkable, whether there were any opportunities for earlier diagnosis and to reduce the
including a normal liver and biliary ultrasound. Her genetic testing revealed incidence of newly diagnosed CYP presenting in diabetic ketoacidosis (DKA).
she was positive for the 6q24 gene locus for transient neonatal diabetes. At Methods
present it is thought that the findings of a hemivertebra and conjugated Retrospective analysis of clinical notes, discharge letters and lab reports.
hyperbilirubinaemia may well be linked to her genetic finding, As the 6q24 locus Results
is associated with abnormalities in other systems. This is of particular interest as Over 12 months (October 2017-September 2018) there were 29 CYP newly
hemivertebra in neonates has a recognised association with maternal diabetes but diagnosed with T1DM in !19-year olds. Time to presentation from onset of
the literature regarding an association between transient neonatal diabetes and symptoms varied from 3 days to 2 months. Polyuria and polydipsia were the
hemivertebra is not well described at present. commonest symptoms, with weight loss in a third. 4 CYP presented to healthcare
DOI: 10.1530/endoabs.66.P40 professionals over the previous 1–2 weeks with similar symptoms. 3 of the 4 later
presented in DKA. In total 12 CYP presented in DKA, 2 with severe and 10 with
mild/moderate DKA. Length of stay varied from 0 to 4 days. 79% were positive
for IA2 or GAD autoantibodies or both. 1 CYP was positive for TPO antibodies
and 1 CYP was positive for anti-TTg antibodies at diagnosis. 93% received
education from the specialist diabetic team prior to discharge, the rest from
nursing and medical staff. Approximately 38% of CYP were carbohydrate
counting at discharge.
Conclusions
These data demonstrate that there was a wide range of time between onset of
symptoms and diagnosis. There was a missed opportunity for an earlier diagnosis
P41 in 4/29 CYP, 3 of whom later presented in DKA, highlighting the importance of
Young person with Prader–Willi syndrome and type 2 ongoing education and awareness in primary care and the general public, to
diabetes – management challenges facilitate prompt diagnosis. We will continue to campaign for increased
Alagusutha Jeyaraman, Sanjay Gupta & Verghese Mathew awareness of the symptoms of new onset of diabetes through participating in
Hull University Teaching Hospitals NHS trust, Hull, UK education sessions. We always feedback to colleagues in primary care for delayed
diagnoses. This approach is important to be considered at regional and national
level.
Introduction
Prader–Willi syndrome [PWS] is a complex genetic disorder with hypothalamic DOI: 10.1530/endoabs.66.P42
pituitary dysfunction that includes obesity, diabetes and behaviour changes.
Obesity in PWS is due to decrease of oxytocin neurons and leptin resistance
causing hyperphagia. Prader–Willi syndrome is associated with high incidence of
altered glucose metabolism. The etiology for diabetes in PWS may be related to
morbid obesity and resultant insulin resistance.
Case report
We present a case report of 15 yrs old boy with Prader Willi Syndrome and type 2
diabetes who was followed up in our endocrine clinic for severe obesity (BMI 46),
developmental delay and behavioural problems. The TFT, MRI brain and CGH P43
array test were normal. In view of his behavioural problems and severe obesity, a Continuous glucose monitoring/flash glucose monitoring in type 1
detailed genetic test for PWS was undertaken at the age of 12 years, which diabetes. Local unit experience at Glan Clwyd Hospital, Wales
confirmed the diagnosis of PWS. He was on metformin from an early age. At 15 Shailendra Rajput, Nazim Alseed & Femi Adeniyi
yrs, he developed polydipsia with a high HbA1c (105 mmol/mol). He was Betsi Cadwaladr University Health Board, Rhyl, UK
admitted to monitor the blood glucose levels (BGL) which was high (13–
16 mmol/l). Continuous glucose monitoring [CGM] was commenced for five days
showed values ranging from 12 to 24 mmol/l. Diabetes related antibodies – GAD, Background
ZnT8 and insulin antibodies – were negative. In view of poor glycaemic control, Use of Continuous Glucose Monitoring (CGM) or Flash Glucose monitoring
he was started on mixed Insulin regimen along with Metformin to tackle (FGM) has increased in children with type 1 diabetes without a conclusive
adherence. Maintenance of optimal glycaemic control remains a significant evidence of sustained improvement in HbA1c. Aims: To assess whether use of
challenge. Treatment options for youth-onset type 2 diabetes are in-adequate, CGM/FGM improves HbA1c. To review admissions, complications and impact
limited to only two approved drugs (insulin and metformin) and the promotion of on the quality of life.

Methods P45
Retrospective study of 33 Type 1 diabetic patients on CGM/FGM. Data collected Practical application and user experience of flash glucose monitoring in
from the case notes and Twinkle database system. A survey questionnaire was paediatric patients with type 1 diabetes
sent to parents/patients to assess the impact on quality of life. Kate Jordan1, Guy Fletcher1, Soraia Vieira2, Christopher Bound2,
Results
Indications for starting CGM/FGM were severe hypoglycemia, age and parental Samir Wassouf2 & Mando Watson2
1
anxiety, reduced hypoglycaemic awareness, difficult glycaemic control and Imperial College London, London, UK; 2Imperial College Healthcare NHS
professional sports. Patients were divided into four baseline HbA1c cohorts, Trust, London, UK
!53 mmol/mol (nZ6), 54–69 mmol/mol (nZ17), 70–85 mmol/mol (nZ6) and
O85 mmol/mol (nZ4). Most patients in the first two cohorts showed no significant Introduction
improvement or slight increase in HbA1c at 6 and 12 months. In 70–85 mmol/mol The FreeStyle Libre is increasingly employed in the management of T1DM. This
cohort, 33% had significant reduction in HbA1c at 6 months (>11 mmol/mol). audit examined if users are meeting the recommended competencies set out in the
100% patients with baseline HbA1c of >85 mmol/mol showed significant reduction London prescribing guidelines, to ascertain if users are aware of and utilising
in HbA1c at 6 months. There was a significant reduction in number of hospital inbuilt features of the Libre, to identify if user training can be enhanced, and to see
admissions from diabetes related problems during the 12 months period after using if Libre use improves patients’ quality of life as a result of Libre use.
CGM/FGM in comparison to the 12 months period prior to CGM/FGM use (3 vs Methods
12, 75% reduction). On Patient/parent satisfaction survey, majority stated that The audit was conducted via a structured questionnaire, administered via phone
they were very satisfied with the use of CGM and it improved their quality of life. interview by consenting users of the FreeStyle Libre.
14% reported problem with signal loss and in one patient the sensor was broken Results
and embedded in the skin requiring surgical removal. Eighteen Libre users participated in the audit (patient ages 7–17 years), among
Conclusion whom length of use ranged from 2 weeks to 3 years; 6 patients were on MDI and
Patients with baseline HbA1c >70 mmomls/mol show significant reduction in 12 were on CSII. Libre users showed a good familiarity with the features of the
HbA1c at 6 months after starting CGM/FGM. 75% reduction in hospital Libre; 94% of participants use the majority (>50%) of the in-built features of the
admissions. Broken sensor embedded in skin requiring surgical removal is an Libre to gain an overall picture of their/their child’s glucose levels and monitor or
unusual complication which has not been reported before. direct ongoing treatment. The three most utilised features are the logbook (89%),
DOI: 10.1530/endoabs.66.P43 daily graph (89%), and average glucose (85%); all of which are deemed beneficial
by the majority of participants. Only 67% of participants download their data. All
participants feel the FreeStyle Libre is superior to conventional capillary blood
glucose testing. Features of the Libre that enhance the users’ quality of life were
superiority to finger pricking (67%), use of trend arrows to help management
(67%), allowing children to manage their own care (61%), convenience (56%),
the ability to see patterns and analyse glycaemic control over time (50%), the
ability to help parents monitor their child’s glucose when they are apart (50%),
and peace of mind/confidence in treatment (22%).
Conclusion
P44 The FreeStyle Libre is considered life-changing technology by the majority of
Treatment of paediatric diabetic ketoacidosis (DKA) with subcutaneous participants; the majority of inbuilt features are utilised by Libre users and
rapid-acting insulin: a UK centre, retrospective review of safety and deemed beneficial. Although recommended minimum competencies are
efficacy data confirmed as being met, future in house training will focus on how to maximise
Katja Freund1, Karen Logan2, Mando Watson1 & Samir Wassouf1 these features and emphasise the need to download data. The audit confirms many
1
St Mary’s Hospital, Imperial College Healthcare, NHS Trust, London, UK; quality of life benefits for Libre users.
2
Whittington Hospital, NHS Trust, London, UK DOI: 10.1530/endoabs.66.P45
Introduction
The British Society of Paediatric Endocrinology (BSPED) DKA guidelines
endorse the use of subcutaneous (SC) insulin in clinically well patients. In our
institution, routine practice is to use SC insulin to manage DKA patients, without
clinical evidence of shock. We present safety and efficacy data.
Methods
A retrospective review of electronic records was performed to identify episodes of
DKA (pH !7.30 or HC03!18 mmol/l and ketonaemia >3 mmol/l) managed P46
with SC insulin, between 2011 and 2019. Cases managed with intravenous insulin A regional UK audit between 2010–2018 of national quality indicators
or continuous subcutaneous insulin infusion (CSII) were excluded. Children and surveillance of staffing levels in paediatric diabetes care units
without clinical shock (alert, with good peripheral perfusion, normal blood Sze May Ng, James T Lay, Margot Carson, Jonathan Maiden &
pressure at presentation) received an initial corrective dose of Novorapid insulin Christopher Gardner
subcutaneously (0.1 units/kg !5 years, 0.2 units/kg >5 years), repeated every 4 h
Children and Young People’s North West Diabetes Network,
until readiness to eat was established. Children with nausea and vomiting received
North West, UK
intravenous fluids. Descriptive characteristics including response to treatment and
occurrence of complications in mild-moderate and severe DKA are presented.
Results Introduction
Sixty-nine cases of DKA were identified, of which 61 (88.4%) were managed The prevalence of diabetes continues to rise worldwide placing an increasing
with SC insulin. Eight episodes were excluded from the analysis: 4 cases managed burden on the national health service. In 2012 a national Best Practice Tariff
with IV insulin, 3 cases with CSII, and 1 case of type 2 diabetes. Three patients (BPT) was introduced in the UK and a National Peer Review Quality Assurance
were monitored on the paediatric intensive care unit. Mean age was 11.6 G 4.2 Programme was developed to drive improvements in diabetes care for children
years. Twenty-three (37.7%) episodes occurred in patients with new onset and young people. Our national audit from 2010 to 2018 aims to explore trends in
diabetes, thirty-six (59%) met criteria for mild-moderate DKA (pH% 7.20), and paediatric diabetic care within the North West Diabetes Network and assess the
25 (41%) for severe DKA (pH%7.10). Resolution of DKA (pHR7.3; clinically impact of national quality initiatives.
well) occurred within 24 hours in 52 (85.2%) episodes; that is in 91.6% of mild- Method
moderate and 76% of severe DKA episodes, and in 78.3% of new onset versus Data was collected from a regional survey in 2010, 2014 and 2018 from each of
89.5% of known diabetics. Recurrence of DKA, hypokalaemia and hypoglycae- the 24 paediatric diabetes units (PDU) in the UK north west region for staffing
mia occurred in 4.9%, 9.8% and 24.6% of episodes respectively. Median length of levels. HbA1c outcomes were extracted from the National Paediatric Diabetic
stay was 2 days. No cerebral oedema, cardiac arrhythmia, or death occurred. No Audit (NDPA) for 2010–2019. We compared staffing levels with mean HbA1c
switch from subcutaneous to intravenous insulin was required. and percentage of patients with HbA1C !58 mmol/mol in 2010, 2014 and 2019.
Conclusion Data was analysed using SPSS 24.0 statistical package.
SC insulin appears to be a safe and effective alternative to IV insulin, in children Results
and young people with DKA, without clinical shock at presentation. Our data There was a significant increase in staffing levels for dedicated admin staff (P !
support results published from institutions worldwide. 0.01), consultants (PZ 0.05), dieticians (P!0.01), specialist diabetes nursing
DOI: 10.1530/endoabs.66.P44 staff (P!0.01) and psychologists (P!0.01) across the network from 2010 to
2014 following BPT. However, between 2014 to 2019, there was only a

significant increase in staffing for administrative support (PZ0.04). The mean pneumomediastinum (PM) and subcutaneous emphysema of neck; CT
HbA1C from PDUs and percentage of patients with HbA1C !58 mmol/mol were demonstrated no convincing oesophageal tear. Urine toxicology showed
significantly improved between 2010 to 2014 but not from 2014 to 2018. MDMA traces and cannabinoids (patient later confided regular cannabis use).
Conclusion DKA management and a conservative surgical approach for possible oesophageal
There had been a significant increase in staffing following BPT in multi- perforation were concurrently undertaken: nil by mouth (NBM); intravenous
disciplinary diabetes teams across PDUs between 2010 and 2014 with similar antibiotics for presumed mediastinitis; total parenteral nutrition (TPN) to promote
improvements seen in HbA1c outcomes. However, between 2014 and 2019, oesophageal healing and prevent catabolism whilst NBM. Insulin titrated to
staffing was only significantly increased for administrative support while mean glucose content of TPN, following DKA resolution. Enteral feeds re-started a
HbA1c were not significantly improved. The audit shows that the driving force to week later, after contrast study demonstrated normal oesophageal appearances
produce better health outcomes does not solely depend on staffing levels of PDUs. and no oesophageal leak. Patient and parents underwent intense diabetes
In 2019, a UK National Quality Improvement Collaborative Programme was re-education and patient referred to local addictions service. HbA1c improved to
developed to support PDUs to transform their service using proven quality 115 mmol/mol (12.6%) by Day 12 with adequate insulin therapy.
improvement methodologies. Tracking of national quality indicators and Discussion
surveillance of staffing levels are essential in further understanding the role that PM is a rare complication of DKA. Case reports describe PM following MDMA
quality initiatives play in driving better outcomes for diabetes care. ingestion (without vomiting) possibly related to Valsalva manoeuvre during
DOI: 10.1530/endoabs.66.P46 extreme physical exertion such as strenuous dancing. Severe vomiting can
generate high intra-thoracic pressures (possibly intensified by recreational drug
use) with alveolar over-distension and rupture, causing air tracking along
bronchovascular bundles and PM. Hamman’s syndrome refers to PM with
subcutaneous emphysema and has excellent prognosis. Effort rupture of the
oesophagus (Boerhaave’s syndrome) has a high mortality from mediastinitis,
necrosis and sepsis; distinguishing between the two entities can be challenging.
Learning points
P47 Spontaneous PM is a rare complication of DKA.
Patient directed carbohydrate counting from diagnosis – the Torbay † Careful assessment needed in DKA patients with epigastric, retrosternal, neck
experience or chest pain
Ravi Lehal & Phil Reilly † DKA admission provides opportunity for re-education and improved glycaemic
South Devon NHSFT, Torbay, UK control; adolescents and families benefit from holistic, open dialogue.
In 2014 Torbay Hospital was a national outlier for diabetes control in the
paediatric population. At this time a transformative quality improvement project
which tracked the patient’s journey through the service resulted in the
introduction of carbohydrate counting from diagnosis. Whilst other hospitals
had already adopted this approach the Torbay team introduced a system of care
where the patient/parent lead the process of calculating carbohydrates and insulin
doses from the point of diagnosis. The hope was that this would reduce the time P49
spent in hospital during the diagnosis period and improve overall control at one Paediatric random glucose requests in primary care
year post diagnosis. This poster presents methodology and comparative data Benjamin Nicholson, Karen Smith, James Law, Tabitha Randell,
about length of hospital stay along with HbA1c data over the first year post Louise Denvir & Pooja Sachdev
diagnosis in the cohorts pre and post introduction of this change. This single Nottingham University Hospital NHS Trust, Nottingham, UK
change is cited as the most significant factor in moving our outcome over 4 years
to a point we are no longer national outliers in our patient’s overall HbA1c control
(below). Background
NICE guidelines (NG18) state that paediatric patients aged !18 years old with
suspected diabetes mellitus (DM) should be immediately referred to specialist
care to confirm diagnosis and provide immediate treatment. The Nottingham
Year 2014 2015 2016 2017 University Hospitals (NUH) Paediatric Endocrine team advise primary care to
HbA1c 74 72 70 68 investigate suspected hyperglycaemia using a POCT (point of care testing)
glucose meter at the primary care facility to avoid the delay incurred by sending a
sample to the laboratory. The aim of this study was to ascertain compliance with
DOI: 10.1530/endoabs.66.P47 this advice and identify any cases where there was a potential delay in diagnosis.
Methods
Retrospective analysis (April 2018–April 2019) identified 1641 laboratory
random glucose requests for patients !18 years of age in the Nottinghamshire
area. A >7.8 mmol/l cut-off was used to identify patients who should have been
referred immediately to secondary care for confirmation and treatment.
Results
The results (nZ1641) identified 16 patients with glucose results >7.8 mmol/l, of
which 5 had results >11.1 mmol/l; consistent with a diagnosis of DM (Type-1
Diabetes 5 DM: nZ4, Type-2 DM: nZ1). Five patients had confirmed delayed referrals, of
P48 which 2 patients presented in diabetic ketoacidosis (DKA). Of the remaining 11
A rare complication of diabetic ketoacidosis: spontaneous patients (>7.8 – %11.1 mmol/l), 1 was a new diagnosis of Type 2 DM, 1 was a
pneumomediastinum with subcutaneous emphysema known case of DM and 9 patients were non-DM related or unknown requests. No
Daniel Yusef, Henna Khattak, Leonie Perera, hypoglycaemic (!2.6 mmol/l) patients were identified. 392 (23.88%) requests
Saravanakumar Paramalingam & Shankar Kanumakala had DM specific symptoms (polyuria, polydipsia, tiredness, weight loss); 883
(53.80%) requests were non-DM related (routine screen, monitoring, abdominal
Brighton & Sussex University Hospitals NHS Trust, Brighton, UK pain, dizziness).
Conclusions
Introduction Primary care paediatric glucose requests showed lack of conformity to the
Diabetic Ketoacidosis (DKA) is a medical emergency and major cause of recommended diagnostic pathway. 392 blood glucose requests were sent despite
mortality in children with type 1 diabetes (T1D). Careful evaluation is needed to DM being considered as a differential which should have prompted a POCT
identify expected and more unusual complications of DKA. glucose check. This increases risk of delayed diagnosis and management in
Case report children with undiagnosed Type 1 DM. Communication and training between
A 16 year old male with poorly controlled T1D presented with severe DKA; he NUH and primary care continues to be essential to improve standards of care but
reported excessive vomiting and had severe abdominal pain. He informed taking can be challenging to arrange with all CCGs across the region. In addition, an alert
‘Ecstasy’ (3,4-methylenedioxymethamphetamine; MDMA) twice in the preced- is now being set-up for electronic requests of glucose for primary care,
ing 72 h. Investigations revealed severe acidosis (pH 6.84), pre-renal failure encouraging the use of POCT glucose.
(serum creatinine 137 mmol/l) and glycated Haemoglobin (HbA1c) >196 mmol/ DOI: 10.1530/endoabs.66.P49
mol (>20%). X-rays excluded sub-diaphragmatic free air, but showed

P50 Methodology
Use of flash glucose monitoring during hypo/hyperglycaemia and to A qualitative descriptive design which was undertaken as method for describing
guide insulin administration in paediatric patients with type 1 diabetes the team’s experiences with SFBT. Data was collected using semi-structured
interviews within a specialist paediatrics diabetes team in the North West of
Kate Jordan1, Christopher Bound2, Soraia Vieira2, Samir Wassouf2 & England. The team consists of a Consultant Paediatrician, 3 specialist nurses, 1
Mando Watson2 patient educator and a specialist dietician. Face-to-face, semi structured
1
Imperial College London, London, UK; 2Imperial College Healthcare NHS interviews were conducted individually with each member. One independent
Trust, London, UK researcher completed all interviews. Voice-recorded interviews were transcribed
verbatim and analysed by another independent researcher using a thematic
approach to identify main themes.
Introduction
Results
Flash glucose monitoring is increasingly used in the management of T1DM.
It was found that SFBT used within the team, improved self-reported confidence,
Although the FreeStyle Libre reduces the overall burden of conventional self-
skills, trust and relationships with patients and their families. Additionally, each
monitoring of blood glucose, capillary glucose should be checked at times of
team member reflected how patient and their families have responded positively
Libre-predicted extreme hypo/hyperglycaemia.
to the SFT approach.
Methods
Conclusion
Consenting FreeStyle Libre users completed a structured questionnaire via phone
Evaluating staff experiences of utilising SFBT in the delivery of paediatric
interview. Users reported incidence of extreme hypo/hyperglycaemia (indicated
diabetes care highlighted that a team’s approach to SFBT is perceived to facilitate
by LO/HI outputs), subsequent actions taken, blood glucose levels correlating to
and support children, young people and their families in managing diabetes. The
LO/HI readings, use of Libre to guide insulin dosing, and any adverse outcomes
implications of SFBT for clinical practice and the dissemination of this approach
directly linked to dosing insulin from Libre values.
to routine clinical practice should be explored.
Results
Seventeen Libre users participated (patient ages 7–17 years; MDI n Z 6, CSII DOI: 10.1530/endoabs.66.P51
n Z 11), length of Libre use ranged from 2 weeks to 3 years. 88% of participants
report times the Libre indicated extreme hypo/hyperglycaemia by outputting
‘LO’ or ‘HI’. All (100%) of those users check their/their child’s capillary blood
glucose when their Libre outputs LO/HI, in line with current recommended
guidelines. 87% of users indicate their Libre readings are highly reliable in
identifying extreme hypo/hyperglycaemia, as confirmed with blood glucose.
Many users reported times their blood glucose levels were not as hypoglycaemic
(53%) or hyperglycaemic (30%) as the Libre indicated. The majority of users
(67% MDI, 100% CSII) use Libre readings to modify/guide insulin dosage;
among users on CSII, 82% use Libre values always/almost always to determine
insulin dosages. 93% of users report their/their child’s blood glucose consistently
responds as expected to insulin they dose from Libre readings. Two users (both
MDI) reported times their child became hypoglycaemic after they dosed insulin
based on Libre readings.
Conclusion P52
Participants report the Libre accurately predicts extreme hypo/hyperglycaemia, A case of ischaemic stroke associated with severe DKA
and 100% of those users check capillary blood glucose at that time. Instances of Tarini Chetty1, Kathryn MacGill2 & Louise Bath1
1
adverse events highlight the need for increased Libre training for certain users. Department of Endocrinology and Diabetes, Royal Hospital for Sick
As the majority of users dose insulin based on Libre readings, frequently only Children, Edinburgh, UK; 2Department of Paediatric Intensive Care,
checking blood glucose for readings significantly out of their target range, Royal Hospital for Sick Children, Edinburgh, UK
clinicians should be aware of a potential gap between medical advice and
practical use of the Libre.
Introduction
Diabetic Ketoacidosis (DKA) is a known risk factor for ischaemic and
haemorrhagic stroke in children and young people. Cerebral oedema may
predispose to ischaemic or haemorrhagic brain injury, however not all cases of
stroke are associated with cerebral oedema. This case illustrates severe
complications of DKA including ischaemic stroke and cardiac arrest, and raises
questions about fluid management in severe DKA.
Case report
We describe the case of an 8-year-old girl presenting as a new diagnosis of type 1
diabetes in severe DKA. Findings at presentation included a blood glucose level
of 35 mmol/l, blood ketones 3.9 mmol/l, pH 6.75, bicarbonate 1.6 mmol/l and
Base Excess K33.7. She had a fluctuating conscious level with a GCS between
9 and 13. Initial management included a 10 ml/kg fluid bolus of normal saline,
P51 followed by maintenance fluid as per BSPED 2015 guidelines. She was
A qualitative study evaluating solution focus brief therapy in improving subsequently admitted to the paediatric intensive care unit and commenced on
delivery of diabetes care by healthcare professionals intravenous insulin at 0.05 units/kg/hr. A dopamine infusion was commenced for
Sze May Ng, Mark Guyers, Dominika Ziemba & Dominic Bray inotropic support in view of concerns regarding hypotension, tachycardia and
poor peripheral perfusion. At 15 h after the initial presentation, left arm and leg
Southport and Ormskirk NSH Trust, Southport, UK weakness was noted, prompting an urgent CT head. This revealed a right thalamic
infarct, with no evidence of cerebral oedema. Shortly after returning from the
Introduction radiology department she had an asystolic cardiac arrest requiring 2 min of CPR
It is essential that children and young people with diabetes are supported to and 1 dose of IV adrenaline. Insulin requirements increased up to a maximum of
manage their diabetes effectively to prevent the development of early 0.24 units/kg/hour following these events, despite resolution in ketosis.
complications. However, the common clinical challenge is difficultly in engaging Subsequent results include a normal coagulation screen and an MRI brain
adolescents and young people to achieve good glycaemic control in their diabetes consistent with previous findings, showed an established right thalamic infarct.
management. Solution Focus Therapy (SFBT) has been found to be especially Conclusions
beneficial with children, adolescents and teenagers because it is a brief model Cerebral Ischaemic stroke is a known, but rare complication of DKA. Proposed
translated to all age groups. With this in mind, it is of interest to discover the mechanisms of elevated thrombosis risk in DKA include systemic inflammation,
attitudes, experiences and common themes a paediatric diabetes team shares disordered coagulation, platelet activation and reduced blood volume and flow.
whilst using SFBT and how it impacts on their delivery of care. Currently there This case describes thalamic stroke and cardiac arrest as severe complications of
has been no research to evaluate any diabetes team’s involvement with clinical DKA. It raises questions regarding how to optimally assess fluid status and
health psychology. This qualitative study aims to evaluate the diabetes team’s manage fluid resuscitation and replacement in severe DKA to prevent
experiences from using SFT in their delivery of diabetes care, discovering aspects intracerebral complications.
that assist their work and providing a greater insight into the use of SFBT in a DOI: 10.1530/endoabs.66.P52
paediatric diabetes setting.

P53 P55
Review of compliance and methods of carbohydrate counting in Iatrogenic cardiac arrest and severe neurological complications in DKA
paediatric diabetic patients at District General Hospital (diabetic ketoacidodis)
Myat Win & Rajiv Goonetilleke Rooha Ijaz Ghauri1,2, Michal Ajzensztejn2 & Chhaya Patankar3
1
North West Anglia NHS Foundation Trust, Huntingdon, UK Great Ormond Street Hospital, London, UK; 2Evelina London Children
Hospital, Londom, UK; 3Turnbridge Wells Hospital, Pembury, UK
Background
It has been proved that calculating the accurate amount of carbohydrate intake and Cardiac complications including cardiac arrest in Diabetic Ketoacidosis (DKA)
good compliance in carb counting play a major role in in diabetes management. have been reported in adults but is not common in children. We present a case of a
Method 31⁄2 year old child with new onset Type 1 Diabetes who presented in severe DKA
All patients who came to diabetes clinic at Hinchingbrooke Hospital in one-month and went into cardiac arrest needing prolonged resuscitation after starting insulin
duration were requested to complete the designed questionnaires anonymously infusion due to rapid drop of serum potassium (KC). Serum KC on presentation
and 17 patients/carers returned the results to the diabetes secretary. We asked was 2.8 mmol/l and dropped to 1.5 mmol/l within 2.5 h of starting insulin leading
about the methods they were using for carb counting, the frequency of carb to cardiac arrest. Although the child survived but ended up with a week in PICU
counting at home and at school, the frequency of estimating the amount of and significant neurological deficit. Failure to acknowledge and properly manage
carbohydrate and the frequency of skipping meal at school. In addition, we hypokalemia in DKA can result in severe, symptomatic hypokalemia with
reviewed how they responded when the nutritional info was not available on the detrimental effects on the neuromuscular and cardiopulmonary systems and
food package. Our aim is to analyse the compliance of carbohydrate counting and warrants consideration to closely follow KC levels during management.1
to provide the effective education and support to caregivers and patients. Reference
Results 1. Shanlee M Davis, et al. Profound hypokalemia associated with severe diabetic
Out of the total 17 responses, 76%, which is 13 responses, were from parents and ketoacidosis, Pediatr Diabetes. 2016 Feb; 17(1): 61–65.
the rest was from patients. Remarkably, 82% of the total responses mentioned that DOI: 10.1530/endoabs.66.P55
they used carb and cal book and app. And when there was no nutritional info on
food package, 35% of the total responders guessed the amount of carbohydrate
using their previous experience while 31% of them relied on the Internet and 34%
of them searched through the reference book. Surprisingly, 94% said that they did
carb counting every time they ate at home whereas only 6% mentioned that they
counted carb 1–3 times per day. However, the compliance dropped at school. 65%
of the responders counted carb every time they ate at school while 6% counted
carb less than one time per day or 1–3 times per week at school.
Conclusion
Even though the parents and patients aware that the compliance and accuracy of
carb counting is vital in the glycaemic control, the encouragement and education
on carb counting still need to be promoted at school.
Diabetes 6
P56
Assessing the impact of continuous glucose monitoring (CGM) and flash
glucose scanning (FGS) on HbA1c levels in paediatric diabetic patients
Sarah Harrison & Mark Burns
The James Cook University Hospital, Middlesbrough, UK
P54 Background
A case of prolonged partial remission of type 1 diabetes Advances in technology have led to new approaches in diabetes management.
Ellada Sotiridou1 & Vipan Datta2 CGM has been associated with improvements in HbA1c, however, the evidence is
1
Paediatric Endocrinology Department, Great Ormond Street Hospital, limited and there are substantial cost considerations. The main aim of this audit
London, UK; 2Paediatric Department, Norfolk & Norwich University was to assess the impact of CGM and FGS on HbA1c levels.
Hospital, Norwich, UK Method
A retrospective analysis of the use of CGM and FGS in paediatric patients under
the care of the children’s diabetes team at James Cook Hospital, Middlesbrough.
Introduction Registers for patients started on CGM and FGS were used to identify patients, and
Newly diagnosed type 1 diabetes is characterized by a transient partial remission electronic notes analysed. Patients were discounted from the HbA1c analysis if
period (‘honeymoon’), starting shortly after initiation of insulin treatment and there was insufficient data. For CGM, a total of 23 patients were identified, 1 of
during which the patient’s requirement for exogenous insulin treatment declines. whom was discounted. For FGS, 32 patients were identified and 16 were
Improvement of peripheral insulin sensitivity as well as a partial beta-cell discounted. For both sets of patients, HbA1c levels were noted prior to starting
recovery with improved insulin secretion was speculating to contribute to the CGM or FGS and after 6, 12 and 24 months of use. In this audit, we also analysed
pathogenesis of this phenomenon. referral criteria for CGM by comparing with NICE guidance.
Case Results
We describe a case of 18 year-old boy who was diagnosed with diabetes following After 6 months of use, the percentage of patients whose HbA1c level stayed the
a 2 week-history of polyuria and polydipsia at the age of 12 years and was same or reduced after commencement of CGM/FGS was only 36% for CGM and
commenced on insulin. His HbA1c on diagnosis was 76 mmol/mol and GAD 50% for FGS. For both groups, this percentage improved with longer use. This
antibodies were detected consistent with a diagnosis of type 1 diabetes. His demonstrates a disappointing reduction in HbA1c despite use of this technology.
diabetes was well managed with mean HbA1c of 51 mmol/mol on minimum However, the group of patients with longer duration of both CGM and FGS use
insulin requirements of 0.4 units/kg per day over the following 6 years indicating achieved greater reductions in HbA1c. This may demonstrate more effective use
unusually prolonged partial permission phase. He underwent further genetic of the technology by families over time. We must consider the limitations of this
investigations for MODY which were negative. However, his urine data, particularly patient numbers with increasing time-periods on CGM/FGS and
C-peptide/creatinine ratio was 0.91 nmol/mmol indicating preserved endogenous regarding documentation. We should also consider other possible beneficial
insulin secretion. effects of the devices not assessed, such as reduced anxiety and improved
Conclusion awareness of hypoglycaemia. 82.6% of patients had documentation of
We present an 18-year-old adolescent, diagnosed at 12 years of age with type 1 compliance with NICE guidance.
diabetes, with spontaneous and partial remission sustained for more than 6 years. Outcome
It is well documented that the residual b-cell function remained highest in the age- In the future, all families will complete a quality of life questionnaire when
group of 10–15 years and this finding is comparable to our case. However further initiating CGM/FGS and annually during use. We will also clearly document;
studies are required to determine which factors contribute to the partial and date when CGM/FGS initiated, education delivered in line with ACDC guidance
transient remission of type 1 diabetes in paediatric population. and how NICE criteria were met.
DOI: 10.1530/endoabs.66.P54 DOI: 10.1530/endoabs.66.P56

P57 Results
A retrospective audit comparing diabetes control during summer and Patients self-adjusting pre QI: (55 responses)
winter, in children with type 1 diabetes 1. Never 18.18%
Emma Smith1, Hannah Norman-Bruce1, Christina Jones2 & 2. 3 monthly 14.55%
Shankar Kanumakala1 3. Monthly 18.18%
1 4. Weekly 29.09%
Brighton & Sussex University Hospitals NHS Trsut, Brighton, UK; 5. Daily 20%
2
University of Surrey, Guildford, UK Patients self-adjusting June 2019: (29 responses)
1. Never 31%
Introduction 2. 3 monthly 13.79%
Lifestyle, exercise and diet vary hugely between summer and winter months 3. Monthly 17.24%
population-wide. We compared diabetes control in children with type 1 diabetes 4. Weekly 13.79%
(T1D), during summer and winter months. 5. Daily 24%
Methods Percentage of patients accessing download clinic June 2019: 60.7% of patients
All children under 18 years with T1D attending our diabetes clinics were eligible. HbA1c trend:
Those diagnosed within one year, changed insulin regimen between seasons or 1. April to September 2017 64 mmol/mol
with incomplete data were excluded. Summer or winter months were defined by 2. October 2017 to March 2018 63.5 mmol/mol
British Summer Time [25 March 2018–28 October 2018] or Greenwich Mean 3. April to September 2018 58.75 mmol/mol
Time [29 October 2018–31 March 2019] use respectively. Clinical data for the 4. October to March 2019 58.75 mmol/mol
previous year (glycated haemoglobin (HbA1c), weight, insulin dose and regimen) Conclusion
and HbA1c matched Diasend downloads (average glucose level, number of Overall the effect of involvement in the QI project has been an extremely positive
tests/day, proportion of tests in euglycaemia, hypoglycaemia and hyperglycae- one. Mean HbA1c had been static for two years until the dramatic reduction
mia) was collected retrospectively. HbA1c and Diasend downloads within first 6 following the QI project. Despite positive feedback for the empowerment tool
weeks of the season were not included, to avoid overlap between seasons. there are a significant number of our patient group who remain uncomfortable
Results self-adjusting insulin and this must remain patient choice. We continue to develop
All 197 patients were audited; 97 excluded as diagnosis within 1 year (60), non- our empowerment tool and are focussing on patients in the first 6 months of
T1D (8), change in insulin regimen (2), over 18 years (1) and incomplete clinic diagnosis to embed good practice early.
data (26). Patients (nZ100) ranged from 3 to 17 years (meanZ12.3, S.D.Z3.4). DOI: 10.1530/endoabs.66.P58
Paired sample t-tests were used to compare data in summer and winter months.
Mean HbA1c (mmol/mol) in summer (meanZ63.6, S.D.Z12.2) was slightly
lower than in winter (meanZ65.6, S.D.Z13.3), but not significant (PZ0.093).
Diasend downloads (nZ82) revealed a significantly high percentage of tests in
euglycaemia range (summer meanZ29.6, S.D.Z13.3; winter meanZ25.4, S.D.Z
13.6) (PZ0.03). There was significantly lower insulin dose used (units/day) in
summer, both for bolus insulin (summer meanZ25.8, S.D.Z12.5, winter
P59
meanZ28.0, S.D.Z13.2) (PZ0.01) and basal insulin (summer meanZ24.7, Audit on paediatric type 1 diabetes patients with HbA1c elevated
S.D.Z14.3, winter meanZ26.3, S.D.Z14.6) (PZ0.03). But no difference noted
>75 mmol/mol at a North West District General Hospital
when total insulin used was adjusted for weight (units/kg/day) between summer Jessica Coulthurst & Mohammed Idris Ahmed
(meanZ0.9, S.D.Z0.3) and winter (meanZ0.9, S.D.Z0.2) (PZ0.94). Blackpool Victoria Hospital, Blackpool, UK
Conclusions
Overall we found lower mean HbA1c in summer (by 2 mmol/mol), but it was not
Introduction
significant. There was greater proportion of tests in euglycaemia range in summer,
Current NICE guidelines recommend that children and young people with Type 1
which may explain the slightly lower mean HbA1c. Insulin requirements
Diabetes Mellitus (T1DM) should aim for a target HbA1c %48 mmol/mol (6.5%)
appeared lower in summer, but no difference noted when adjusted for weight.
to reduce the risk of long-term complications. The National Paediatric Diabetes
However, multiple factors affecting glycaemic control were not individually
Audit (NPDA) shows that the number of young people under the paediatric
studied.
diabetes service with HbA1c >75 mmol/mol at this District General Hospital has
DOI: 10.1530/endoabs.66.P57 been consistently and significantly above both the North West and national
average. This has serious future health implications for our patients and creates a
persistent pressure on the service.
Aims
To assess the degree to which the recommendations from the previous audit
(2017/18) have been implemented into current practice. To identify barriers to
better glycaemic control and suggest recommendations for the diabetes service to
put into practice to improve the management of patients with consistently high
P58 HbA1c.
Quality improvement project assessing effect on diabetes control from Methods
the introduction of an empowerment tool to facilitate insulin self All paediatric patients with two or more previous consecutive HbA1c
adjustment >75 mmol/mol were identified from NEXUS. A number of patients parameters
Mark Burns including age, sex, number of clinic visits and insulin regimen were analysed to
assess for correlation with increasing HbA1c. All data collected was from the
South Tees Hospitals NHS Foundation Trust, Middlesbrough, UK period 23 April 2018 to 23 April 2019.
Results
Introduction 47 patients were identified as having their latest HbA1c >75 mmol/mol; 7 patients
We were one of ten paediatric diabetes teams taking part in the pilot RCPCH QI were excluded based on an isolated result. 22 females (54%) and 18 males (46%)
project initiated in Autumn 2017 and the sole representative from the North East were identified. 21/40 (52.5%) patients were in the 16–18 age-group compared to
of England. The project we chose was to enable and empower children, young 40% and 43% in 2016/17 and 2017/18 respectively. All patients with HbA1c
people and their families to improve overall diabetes management, long term >130 mmol/mol were age 15–18 years. The proportion of children on multiple
health and wellbeing through education and knowledge in adjusting insulin to daily injections and continuous subcutaneous insulin infusion regimens was
improve blood glucose control. equivalent to the national average. All diabetes-related hospital admissions
Method occurred in patients with HbA1c R100 mmol/mol. 9 patients had documented
We created a bespoke diabetes empowerment tool giving advanced diabetes evidence of receiving alcohol and 25/40 patient were offered dietetic input.
education and practical advice of how to make appropriate changes to insulin to Conclusions
improve HbA1c. After making improvements following focus group feedback the The transition period (16–18 age group) appears to be a focus for deteriorating
tool was given to all patients and families along with individualised education disease control. Higher HbA1c measurements observed in this group were
within clinic of how to use it. At the same time we set up a download clinic to associated with diabetes-related hospital admissions indicating the need for more
encourage downloading of meters and pumps and promote communication with extensive input. Documentation of dietetic input and alcohol education remains
the team via email or telephone. We surveyed all patients before and after the QI poor.
project about self-adjustment and we assessed HbA1c from the start of the QI DOI: 10.1530/endoabs.66.P59
project, September 2017 to March 2019.

P60 Group 1: Downloading average HBA1C was 56

Audit on the management of diabetic ketoacidosis in children in 2 Group 2: Not downloading average HBA1C was 71
District General Hospitals: creation of a DKA pathway All members of group 2 now downloading over a period of 3 months – average
Rabbi Swaby, Izzuddin Nor & Tanya Naydeva-Grigorova HBA1C now 57. We started using HbA1C tracker in clinic notes to monitor
trends. One stop annual review clinic was set up to meet multidisciplinary team
United Lincolnshire Hospitals NHS Trust, Lincoln County Hospital, and undertake care processes. Safe management checklist to keep patient out of
Lincoln, UK hospital was discussed in all annual review clnics.
Reflections
Introduction Team had Positive ‘Go for it’ attitude. QI huddles and Cross site meetings helped
Diabetic Ketoacidosis (DKA) is a common complication of Type 1 Diabetes strengthen team bonding and boosted morale.
(T1DM), accounting for around 21% of all diabetes related admissions. It is a What next?
major source of morbidity and mortality amongst children with T1DM. Delayed Consider a virtual clinic. Audit the management of patients a year after diagnosis.
diagnosis, shock, renal failure, cerebral oedema and sepsis remain problematic. The journey continues...
The aim of this project was to compare local management to best practice as per DOI: 10.1530/endoabs.66.P61
the British Society for Paediatric Endocrinology and Diabetes (BSPED), and
provide intuitive ways to improve patient management.
Methods
A retrospective audit of the case notes of patients aged 0–16 attending A&E
across two sites of the trust were identified using the clinical code ‘Type 1
Diabetic with Ketoacidosis’. A 1 year period was analysed. Standards were set as
per BSPED, which included correct diagnosis, correct fluid choice, initial fluid
resuscitation including fluid calculations, timing of insulin, and monitoring of
blood sugars, blood gases and neurological monitoring if appropriate. P62
Results Boy with type 1 diabetes and chronic idiopathic pancreatitis secondary
Overall twenty-four patients were admitted across our two sites (n total Z 24). to heterozygous variance for SPINK 1G
96% of patients were correctly diagnosed and the average time to fluid initiation Kavitha Tharian
was 15 min. The average time between initiation of fluids to insulin was 1 h
23 min, although 12.5% of patients had their insulin started after 15 min of fluids. NLAG, Grimsby, UK
Around 30% of patients received a fluid bolus despite not being recorded as
shocked. 83% of patients had appropriate fluids used including potassium. Only 13 year old lad diagnosed to have type 1 diabetes at the age of 18 months, moved
60% of patients had hourly blood sugar monitoring and a minimum of 4 hourly to our area when he was about 5 years of age coming from a family with complex
blood gases/U&E monitoring. 58% of patients had their fluid calculations social background. His diabetes control has always been challenging with HBA1c
recorded. Around 80% were resuscitated over 48 h, and 90% had their fluids generally above 70 mmol/mol and only occasionally going below 70. He was
based on weight. 70% of those requiring neuro-obs received them as per protocol. tried on multiple daily insulin (MDI), then insulin pump and then back to MDI –
Conclusion currently he is on Insulin degludec. He had recurrent admissions to the paediatric
Whilst most patients were correctly diagnosed, there were many inconsistencies ward with tonsillitis and eventually had a tonsillectomy done. Subsequently he
in DKA management. Therefore, we have implemented several measures to aid had multiple admissions with headache. He had lumbar puncture done to exclude
clinicians. Firstly, ensuring regular education of healthcare professionals on idiopathic intracranial hypertension which was ruled out, later diagnosed to be
T1DM and DKA. Secondly, creating a DKA pathway to aid clinicians from the migraines. He was initially on antimigraine prophylaxis with reported good effect
initial assessment to recovery of DKA. It will aid in diagnosis, initial fluid and later came off this. He then presented with recurrent lower abdominal pains
resuscitation, accurate fluid calculation and monitoring. and eventually had an appendicectomy done histopathology of which showed non
DOI: 10.1530/endoabs.66.P60 inflamed appendix. After a brief period of convalescence, he again represented
with recurrent abdominal pain. He was noted to have persistently elevated
creatinine with intermittently raised urea. Ultrasound abdomen and kidneys done
showed normal kidneys and atrophic pancreas which was later confirmed by MRI.
He was diagnosed to have chronic pancreatitis and was identified to have
heterogeneous variant detected for SPINK 1G which is believed to have caused
the acute on chronic pancreatitis. He has been started on selenium ACE. His
faecal elastase was normal, however if he presents again with recurrent abdominal
pain he would need review for exocrine pancreatic insufficiency. This young man
P61 has been challenging due to the complex family background, cared for by single
Our diabetes quality improvement initiative journey – ensuring an mother with two other boys with challenging needs, tendency of mother to
efficient and purposeful clinic experience... medicalise the boy and perhaps exaggerate symptoms with varying history to
Kavitha Tharian1 & Madhavi Madhusudhana2 multiple professionals and the lad not that unwell each time he presented.
1 Possibility of fabricated illness (FII) was and is still being considered but with the
NLAG, Grimsby, UK; 2NLAG, Scunthorpe, UK new diagnosis of chronic pancreatitis, this has now been put in the background
though still being monitored. He is now diagnosed to have chronic kidney disease
Our diabetes service was successful in the application to participate in the stage II.
RCPCH Quality improvement initiative (2018–2019). DOI: 10.1530/endoabs.66.P62
Our aims were
To identify strategies to enable teams to work collaboratively across multiple trust
sites, 30 miles apart, covering a 50 mile radius. To undertake and complete
projects in a timely and efficient manner to provide an equitable service across
sites. To help maintain consistent improvement in HbA1c outcomes. To
implement a programme of continuous education for children and young people
with diabetes (CYPD) within the clinic.
To enhance the patient and families’ clinic experience.
– To improve the percentage of care processes completed.
Consistent Information for patients was crucial – the team agreed for common
goals and targets cross site and trained nursing and medical teams. We reviewed Learning from Mistakes and Miscellaneous
the current clinic situation by providing the previous year’s PREMS questionnaire
and monitored the patient journey in clinic. The clinic environment was altered to
P63
save time between various care processes and waiting times were used to provide The use of ‘Hypopaks’ in the investigation of hypoglycaemia in children
micro-teaching to patients. All CYPD were handed out ‘All About Me’ handout Rachel Beckett1, Kirsty Spence2, Gillian Hamilton3, Mohammad Alcheikh1,
which reinforced basics of diabetes management. We started offering CYPD the Siobhan O’Sullivan1, Grainne Connolly3, Margaret McDonnell4,
opportunity to download their glucose meter to diasend in clinic to encourage Noina Abid1 & Emmeline Heffernan1
1
downloading at home. The number of patients downloading increased from 22 in Royal Belfast Hospital for Sick Children, Belfast, UK; 2Regional
March to 33 in May 2019. Comparison of random 5 patients who regularly Endocrine Laboratory, Belfast, UK; 3Regional Metabolic Laboratory,
downloaded prior to QI project, compared to 5 patients who never downloaded: Belfast, UK; 4Clinical Biochemistry Laboratory, Belfast, UK

Introduction P65
When hypoglycaemia (blood glucose !2.6 mmol/l) is detected in a child a Perplexing presentation of hypoglycemia
‘Hypopak’ is sent, which tests for blood glucose, lactate, hydroxybutyrate, Susan Muniu & Uma Kumbattae
insulin, growth hormone, cortisol, amino acids, acylcarnitines, and urine organic
University Hospitals of North Midlands, Stoke-On-Trent, UK
acids. We aimed to determine whether samples were sent appropriately and
completely, and whether a diagnosis ensued.
Methods Introduction
All Hypopak samples received by the laboratory between 1/4/17 and 31/3/18 were Ketotic hypoglycaemia is not an unusual presentation in preschool children
reviewed. Samples with glucose R3 mmol/l or unrecorded were excluded. We particularly following gastroenteritis. Non-ketotic hypoglycaemia in a child is
used data handwritten on request forms and the Northern Ireland Electronic Care uncommon and could be due to endocrine or metabolic disorders.
Record for information on the event and follow up. Case report
Results Presentation: 4-year-old presented with fainting episode and hypoglycaemia as
223 Hypopaks were received from 210 patients. 51% were from girls and 67% first episode. She was managed by the ambulance crew with oral glucose. Weeks
!3 years. Only 36% had complete results for all tests. 113 samples (51%) had later present to emergency department with non ketotic hypoglycaemia,
glucose !3 mmol/l (3 samples !1 mmol/l), of these 83% had all endocrine tests associated with a mild viral respiratory illness. Hypoglycaemia screen was
completed. 25 samples (23 patients) had detectable insulin, 3 following dextrose insufficient but not noticed before discharge. Treated with intravenous glucose
administration and 9 from neonates. 10 patients had low/undetectable ketones. Of and discharged home with a glucose meter and Dextrose tablets. She was admitted
these, 1 had dumping syndrome, 1 was following dextrose, 1 had a metabolic to ward following the concern from school about frequent hypoglycaemia around
disorder and the remainder were neonates. 24 samples (23 patients) had cortisol 0930 h at school. In the ward the patient continued to have hypoglycaemia mainly
!450 nmol/l (mean and median both 212 nmol/l, range 24–435 nmol/l). at late night or early morning she was on milk free diet, inhalers, antireflux,
Subsequently, 6 patients had a synacthen test (resulting in 2 diagnoses of medications, emollients and antihistamines.
ACTH deficiency), but 14 had no further testing. 3 patients had repeat cortisols Investigations
sent (all >400 nmol/l). Defining sufficient growth hormone as 6.7 ng/ml, 76 Review of the blood glucose meter showed a trend of hypoglycaemia on weekday
samples had insufficient levels (6 samples !1 ng/ml). 1 patient is on growth morning in school. No blood glucose readings on school holidays or weekends.
hormone for septo-optic dysplasia (previously diagnosed) and 1 has IGF1 and day 3 of admission Blood glucose 1.8 mmol/l, ketones 0.2 mmol/l.
IGFBP3 deficiency (not on growth hormone and had 5 samples sent). 14 patients Background
with growth hormone !6.7 ng/mg are attending/have been discussed with Preterm, no hypoglycaemia concerns in neonatal period. In infancy frequent
Endocrinology. Following Hypopak investigations 2 patients were diagnosed inpatient and outpatient for gastroesophageal reflux, faltering growth, food
with mitochondrial complex I deficiency. aversion, required nasal gastric tube feeding between 4 and 8 months of age She
Conclusions had neonatal follow up till 2 years of age. Recent outpatient review for
Hypoglycaemia is most common in the !3 years age group but samples are co-ordination concerns and has been under follow up with gastroenterology
frequently taken inappropriately and incompletely. Patients are often not followed ,respiratory and allergy clinic and awaiting psychologist referral for night terrors
up once the result is available and very few patients are diagnosed with an and urology referral Further results indicated the presence of exogenous insulin
Endocrine or Metabolic disorder. We propose delaying analysis of some more administration with low C-peptide. Further enquiry unravelled there was insulin
expensive tests until blood glucose is confirmed !3 mmol/l and developing a accessible at home
guide for result interpretation and follow up. Lessons learnt
DOI: 10.1530/endoabs.66.P63 – Detail of chronology of events including the pattern of the time of
hypoglycaemic events.
– Detailed family history including medications available in the home and
parent’s profession.
– Significance of having single paediatrician and communicate with other
professionals involved in the care of the child
– Discharge letter should include blood sugar monitoring plan, hypoglycaemia
treatment plan ,care plan for school and early follow up in the clinic.
P64 DOI: 10.1530/endoabs.66.P65
‘Cognitive Bias – One of many’
Iyabo Oyibo, Shika Jain & Nirupa D’Souza
Princess of Wales Hospital, Bridgend, Bridgend, UK
Cognitive bias is a systematic error in thinking that influences decision making

and judgement. It occurs when people are processing and interpreting information
given to them. Contemporary theories of clinical reasoning suggest a dual
processing model, which consists of (i) a rapid intuitive component based on
personal ‘mind lines’, heuristics, beliefs, judgements and preferences, and (ii) a
slower logical and analytical component based on science and rationale. The rapid
intuitive component is accurate for many decisions but is vulnerable to various
cognitive biases. However evidence shows that most humans prefer to use this P66
form of reasoning whenever possible. Cognitive biases (such as availability bias, b-carotenaemia with secondary amenorrhea in a teenage athlete
framing, confirmation bias, the anchoring effect and premature closure, affective Victoria Thurston, Jennifer Calvert & Pooja Sachdev
bias, blind obedience, and overconfidence) and personal traits (such as aversion to
Nottingham University Hospitals NHS Trust, Nottingham, UK
risk and ambiguity) may be associated with diagnostic inadequacies, medical
errors and sub optimal management. The ultimate consequences of medical errors
are avoidable hospitalisation, medication under use and overuse, and wasted Introduction
resources that may lead to patient harm. We report a case of a fourteen year old Aurantiasis cutis is an asymptomatic condition characterised by yellow
boy who presented with polydipsia, polyuria, reduced appetite and weight loss. discolouration of the skin and is caused by high levels of b-carotene. Beta
He was managed as a case of disordered eating in a Children and Adolescence carotenaemia has frequently been associated with the development of menstrual
Mental Health unit for a year; spending three months of that period as an inpatient disturbances in women but no causal link has been established.
on nasogastric tube feeding. Following review as a paediatric in-patient, he was Case report
found to have pituitary dysfunction and a CT scan showed hydrocephalus with an We herein present a case of a 15 year old Caucasian girl (otherwise well, BMI 24)
intracranial tumour involving pituitary and pineal gland which confirmed a who presented with aurantiasis cutis together with a four month history of
germinoma on histology. Errors that stem from cognitive bias may be difficult to secondary amenorrhoea. Menarche was at the age of 12 and her cycle had been
discuss because they are personal; and acknowledging them may feel like failure. regular. Hyperbilirubinaemia was excluded and she had a normal renal and lipid
Hence, improving our understanding and awareness of our own bias is an profile and normal adrenal and thyroid function. She exercised regularly,
essential first step in enhancing our understanding of clinical decision making, consistently training up to ten hours a week for the regional hockey team. Despite
improving patient care, informing future research and preparing clinicians for the being rich in fruit, vegetables and protein, her diet that was too ‘healthy’ as it was
cognitive rigours of clinical medicine. insufficient for her high energy expenditure and comprised on average
DOI: 10.1530/endoabs.66.P64 1700 kcal/day, 87% and 72% of the recommended fat and carbohydrate intake
respectively. Her test results are shown in the table;

demonstrated by heteroduplexes in the T7 Endo assay. In addition, the

Test Result optimisation of the ELISA insulin assay in wild type bTC6 cells has demonstrated
a dose dependent GSIS which can be used as a standard to compare the GSIS from
LH 0.7 U/l the KO cell model.
FSH 5.8 U/l Conclusions
E2 !66 pmol/l The results of our study so far has demonstrated the potential of the use of
Beta carotene 6.04 mmol/l (0.19–1.58) Cas9/gRNA system as an efficient reverse genetic tool in studying the molecular
Alpha carotene 1.2 mmol/l mechanisms underlying CHI. Future aims are to: conduct molecular interrogation
Bone mineral density (DXA) C2.1 to confirm the KO in Abcc8 and Hadh gene; and further, use the newly generated
KO mutant cells to analyse the function of these genes and furthermore, to test
and develop novel therapeutic drugs for CHI.
Biochemistry results show low levels of gonadotrophins and oestradiol consistent DOI: 10.1530/endoabs.66.P67
with a diagnosis of hypogonadotrophic hypogonadism. As well as a raised b-
carotene she had raised levels of lycopene, lutein and cryptoxanthin which all
come from green leafy vegetables. Beta carotenaemia is most commonly caused
by excessive dietary intake of b-carotene rich foods or dietary supplements. It can
also be caused by diabetes mellitus, hypothyroidism, nephrotic syndrome, liver
disease and a failure of enzymatic conversion of carotene to vitamin A.
Discussion and conclusions
The patient was found to have functional hypothalamic amenorrhoea resulting
from insufficient calorie intake and excessive exercise. The patient’s yellow skin
was a result of b-carotenaemia due to excessive intake of raw vegetable and fruit.
Although there are previous reported cases of adult patients with both
presentations occurring together, no causal link has been established and are
most likely related to the patient’s lifestyle. Dietetic counselling has been
provided and follow up is ongoing.
P68
Mitochondrial disorders and endocrine dysfunction
Ramya Venkataramakrishnan1 & John Barton2
1
Nevill Hall Hospital, Abergavenny, UK; 2Bristol Children’s Hospital,
Bristol, UK
Mitochondrial disorders are the result of mitochondrial respiratory chain

dysfunction and caused by mutations of genes encoded by the nuclear or the
mitochondrial DNA. They affect approximately 1 in 5000 of the population and
are the most common group of inborn errors of metabolism. Most of them involve
multiple organ systems with predominant central nervous system features
including ptosis, external ophthalmoplegia and sensorineural hearing loss.
P67 Introduction
Using CRISPR/Cas9 gene editing to study the molecular mechanisms of Endocrine dysfunction is caused by decreased intracellular production or
congenital hyperinsulinism (CHI) extracellular secretion of hormones. Diabetes mellitus is the most frequently
Preetha Purushothaman1, Amy Walker1, Ruhina Maeshima1, seen endocrine dysfunction followed by growth hormone deficiency, adrenal
Martin Attwood1, Khalid Hussain2 & Stephen Hart1 dysfunction, hypogonadism and hypoparathyroidism.
1
UCL GREAT ORMOND STREET INSTITUTE OF CHILD HEALTH, Case report
London, UK; 2Sidra Medical and Research Center, Doha, Qatar Our patient presented at 3 years of age with vomiting and collapse secondary to
tonsillitis. Bloods showed hypoglycaemia, hyponatremia and metabolic acidosis.
Cortisol was 239 nmol/l and ACTH was >1500 ng/l. Adrenal antibodies-negative.
Background She was diagnosed with isolated glucocorticoid deficiency and commenced on
Congenital Hyperinsulinism (CHI) is characterized by the unregulated secretion hydrocortisone. At 8 years of age bloods showed mild hypoparathyroidism. She
of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and was also noted to have enamel hypoplasia, slow growth and intermittent
KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium diarrhoea. Autoimmune polyglandular syndrome type 1 was considered though
inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K there was no mucocutaneous candidiasis. Gene testing for anti IFN alpha IL-17
channel), are the most common identified cause of the condition. Defects in the and 22 and common mutations in AIRE gene were negative. She was diagnosed
HADH gene are responsible for SCHAD-HI, a rare form of the disease caused by with bilateral sensorineural hearing loss aged 10. At 11 years of age she was
the disruption of fatty acid oxidation. diagnosed with insulin dependent diabetes mellitus. GAD antibodies were
Aims strongly positive. Molecular genetic testing in Oxford did not identify any
Use the novel CRISPR/Cas9 gene editing technique to create a KO mouse cell pathogenic variant in AIRE gene. At 16 years of age developed tremors in both
model of Congenital Hyperinsulinism. The two genes of interest are ABCC8 and hands. CT brain showed hypodensity in both globus pallidi. Mitochondrial
HADH. This cell model would be used for molecular and functional interrogation disorder was considered as she was noted to have tremors, bradykinesia, rigidity
and may further aid in development of novel therapeutic drugs for CHI. and bilateral ptosis. Her fundal appearance was diagnostic of MIDD (Maternally
Methods inherited diabetes and deafness). Genetic testing showed single major mito-
Single guide RNAs (gRNA) were designed to target both genes of interest. At the chondrial DNA rearrangement due to deletion, likely sporadic. Final diagnosis:
molecular level, the T7 Endonuclease assay and Sanger sequencing has been Mitochondrial disorder and insulin dependent diabetes mellitus.
performed. Single cell cloning is currently under progress. Optimisation of Learning points
ELISA using wild type (WT) and KO bTC6 cells to demonstrate glucose- Early consideration of mitochondrial disorders in children presenting with multi
stimulated insulin secretion (GSIS) and Western Blot analysis looking for reduced organ involvement. Though diabetes mellitus is the common endocrine disorder,
protein expression in KO cell population is being undertaken concurrently. primary adrenal insufficiency has been reported prior to the onset of neurological
Results symptoms.
Progress so far has addressed the optimisation of transfection conditions to deliver DOI: 10.1530/endoabs.66.P68
the gRNA. LPR nanocomplexes were used successfully in the transfection of
bTC6 cells. The molecular validation of Abcc8 and Hadh KO models has been

P69 LFTs were checked in 50%. Bone age had not been investigated in the past 12
Improving the patient journey in the children and young people months in any patients, and it had never been done in 33%.
diabetes clinics of the Cardiff and Vale Health Board Conclusions
Eunice Pak & Ambika Shetty We are good at measuring height and weight, but could improve our blood test
and bone age investigations to ensure that we meet recommendations. We plan to
Cardiff University, Cardiff, UK give a copy of the checklist to the patients’ parents to empower them and act as a
reminder, and to nominate 1 clinic appointment each year as an ‘Annual review’,
Introduction during which this checklist should be consulted. We plan to re-audit 1 year
In the Cardiff and Vale (C&V) Health Board, there are 203 children and young following this implementation.
people (CYP) under the care of the multidisciplinary team (MDT), 96% of whom DOI: 10.1530/endoabs.66.P70
have T1DM. Every CYP is offered four outpatient clinic appointments every year,
one of which is an annual review. The majority of them are situated in the
University Hospital Wales (UHW) site, whereas the University Hospital
Llandough (UHL) clinic was introduced in 2016 for easier access for the CYP
from the Vale area.
Objectives
– To improve the patient journey in the CYP diabetes clinics in the C&V Health
Board.
– To identify functional and process bottlenecks in the patient journey and suggest P71
potential improvement methods to the MDT. Intracranial hypertension secondary to severe obesity: case series
Method Louise Apperley, Karen Erlandson-Parry, Peter Laing, Urmi Das &
24 CYPs are followed through their journey in the UHW and UHL paediatrics
diabetes clinics from registration to check out throughout a 6-week period (9 from Senthil Senniappan
UHW and 10 from UHL). The average time taken for each process and average Alder Hey Children’s Hospital, Liverpool, UK
total time taken are noted and illustrated on a patient journey timeline.
Bottlenecks that interrupt the flow of the clinic resulting in delays are identified Introduction
by direct observation and tabulated into a fishbone diagram. The prevalence of childhood obesity is continuing to increase, especially in more
Results deprived areas. It is estimated that 28% of children are overweight or obese in
The MDT consultation takes the longest duration (30 min) out of all processes for England. Evidence has shown that obesity is associated with increased
both annual and routine reviews of both clinics – meeting the standard as stated in intracranial pressure (ICP) in adult and paediatric populations. We report three
the National Paediatric Diabetes Network Guidance. The maximum time taken patients who presented with intracranial hypertension due to severe obesity.
for the entire clinic process is 107 min in UHW and 57 min in UHL; the minimum Case 1
time is 40 min and 31 min for UHW and UHL respectively. A total of 14 A fifteen-year-old girl presented with severe headaches and reduced vision
bottlenecks are identified which address the equipment and people involved, following which she was noted to have papilledema. Her weight was 136.1 kg
patient education, communication process, environment and general process of (C8.24 SDS) and BMI was 45.3 kg/m2 (C3.81 SDS). She suffered from anxiety
the clinics. and found eating comforted her.
Conclusion Case 2
Several quality improvement suggestions, aiming to address the bottlenecks, are A sixteen-year-old girl was noted to have asymptomatic papilledema following
proposed to the MDT during a service meeting. Several interventions have been a routine optician review. Her weight was 114 kg (C5.98SDS) and BMI was
agreed to be implemented following discussion; evaluation on whether there are 58.2 kg/m2 (C4.46SDS). She had delayed puberty and her mother has type 2
improvements to the efficiency, patient education and communication process in diabetes mellitus.
the clinics is required following implementation. Case 3
DOI: 10.1530/endoabs.66.P69 A nine-year-old girl presented with an eight week history of headaches, vomiting
and diplopia and was noted to have papilledema. Her weight was 67.6 kg
(C5.15SDS) and BMI was 35 kg/m2 (C3.73SDS). Her mother has polycystic
ovary syndrome and alopecia. None of the patients had features of Cushing’s
syndrome and investigations including thyroid function, HbA1c, liver function
and lipid profile were normal. Oral glucose tolerance revealed insulin
insensitivity. Brain imaging ruled out other causes for raised ICP. All patients
underwent a lumbar puncture and the opening pressures were greater than 40 mm
H2O (one patient needed multiple lumbar punctures). The patients were started on
P70 Acetazolamide and were given advice about lifestyle modification to aid weight
loss. Two patients were commenced on metformin which was not tolerated and
Audit of annual review investigations for girls with Turner’s syndrome subsequently discontinued.
against the Turner’s syndrome support society checklist Conclusion
Abigail Nye & Edward Coxson We describe three patients who have severe complications due to obesity. The
Royal United Hospital, Bath, UK exact mechanism of raised ICP due to obesity is unclear but evidence has shown
that weight loss will reduce ICP. Lifestyle changes and metformin therapy were
not successful in our patients. They continue to gain weight which is likely to
Introduction
further compromise their long-term health. Newer therapeutic options are
Turner’s syndrome, also known as 45 X, or 45 X0, is characterised by the absence
urgently needed to manage morbid obesity. It may also be beneficial to screen
of one of the pair of X chromosomes. Clinical features are variable, and affected
obese patients for papilledema as one of our patients was asymptomatic.
girls require regular review to identify and manage these. The Turner’s Syndrome
Support Society has produced a health checklist for the management of Turner’s DOI: 10.1530/endoabs.66.P71
Syndrome, which provides a schedule for investigations. The aim of this audit was
to evaluate whether we are meeting these standards.
Audit methodology
We performed a retrospective audit in January 2019 of all patients with Turner’s
syndrome, cared for in our District General Hospital. We identified patients using
the local Endocrinology patient database, and then used paper and electronic
notes to collect data from both the local DGH and regional tertiary unit.
Outcomes
9 patients were identified who had a diagnosis of Turner’s Syndrome. 3 patients Pituitary
had classical X0 Turner’s syndrome, 5 patients had mosaic Turner’s syndrome
and 1 had an abnormal X chromosome. At the most recent clinic visit, 89% of P72
patients had height and weight recorded, but only 22% had BMI; blood pressure Real-world safety data in children with Noonan syndrome treated with
was recorded in 22%. 78% of patients had had thyroid function checked within growth hormone: results from NordiNetwIOS and the
the past 24 months, but only 11% had had thyroid antibodies, compared to 44% AnswerwProgram
who had had coeliac antibodies. 11% had blood glucose checked within the past Pétur Júlı́usson1, Jovanna Dahlgren2, Jennifer Abuzzahab3, Jo Blair4,
12 months, but 33% had had HbA1c and IGF-1. Of the 4 post-pubertal patients, Alberto Pietropoli5 & Alicia Romano6

1
University of Bergen, Bergen, Norway; 2University of Gothenburg, Design
Gothenburg, Sweden; 3Children’s Minnesota, Saint Paul, USA; 4Alder Hey Genetic variants were identified from our SS gene panel which interrogates
Children’s Hospital, Liverpool, UK; 5Novo Nordisk Health Care AG, coding and non-coding regions of known GHI genes using our established
Zurich, Switzerland; 6New York Medical College, Valhalla, USA bioinformatics pipelines. Aberrant splicing was confirmed by in vitro splicing
assays using an exon trap vector (pET01, MoBiTec GmbH, Germany).
Results
Objective A heterozygous GHR variant (42718139T>G, c.810-15T>G) identified in Patient
To describe real-world safety data on growth hormone therapy (GHT) in 1 was predicted to decrease splicing efficiency due to disruption of the
paediatric patients with Noonan syndrome (NS) who were enrolled in NordiNetw polypyrimidine tract prior to exon 9. The strongest nearby alternative splice
IOS and the ANSWERwProgram. site was 26 bases 3’ from the exon/intron boundary. The variant was inherited
Introduction from his mother with a similar phenotype. A de novo heterozygous GHR variant
Patients with NS have a high prevalence of cardiac defects and an increased risk (42718180T>G, c.836T>G) identified in Patient 2 was predicted to create a
for leukaemia and certain malignancies compared to the general population. cryptic splice site within exon 9. Splicing assays confirmed the presence of mutant
Current safety data do not indicate an association of GHT with worsening of transcripts in both patients. Both novel variants cause frameshift and predicted
congenital cardiac defects or an increased risk for malignancies in NS patients; premature truncation of GHR transcripts. Consistent with published reports, both
however, data are limited. had less severe growth failure than ‘classical’ GHI (height SDS K3.2 and K2.7,
Methods respectively). We also identified a novel homozygous GHR variant
The long-term effectiveness and safety of Norditropinw, were evaluated in two (42700940T>G, c.618C836T>G) in Patient 3. In silico analysis predicted
non-interventional, multicentre studies. We report safety results for 412 paediatric donor splice site creation and in vitro splicing analysis confirmed inclusion of a
patients with NS. 152bp pseudoexon. This causes frameshift and premature truncation of all GHR
Results mRNA in keeping with his severe GHI phenotype (height SDS K7.5). We predict
31 safety events were reported in 21 patients. The majority 67% (21/31) were nonsense mediated mRNA decay and are currently testing this hypothesis.
Non-Serious Adverse Drug Reactions. Most patients experienced a single event Discussion
(16/21). One patient reported two Serious Adverse Drug Reactions. Under the Three novel GHR splicing mutations contribute to our understanding of GHI. Our
MedDRA term, ‘Neoplasms, benign, malignant and unspecified’, four events findings highlight the importance of considering dominant negative mutations in
were reported in three patients. Cardiovascular comorbidities were reported in non-classical GHI and studying variation in deep intronic sequence as a cause of
35 (8.5%) patients prior to GH start. After GH start, (potentially pre-existing) monogenic disorders.
cardiovascular comorbidities were reported in five patients: unspecified
cardiovascular disease (nZ3), pulmonary valve stenosis (nZ1) and ruptured DOI: 10.1530/endoabs.66.P73
abdominal aortic aneurysm (nZ1); these events were all reported as
comorbidities rather than Adverse Events. No other cardiac SARs, NSARs or
SAEs not related to GHT were reported.
Discussion
In the current analysis, one cardiac safety event (ruptured abdominal aortic
aneurysm) was reported. A recent randomised, double-blind, clinical trial of
Norditropinw, in which cardiac function was monitored (nZ51), showed no
evidence of a negative effect of GH on cardiac function or structure. Furthermore,
previous reports indicate that long-term GHT does not appear to have negative P74
effects on the heart, in particular, ventricular wall thickness. STAT5B missense variant causing growth hormone deficiency with
Conclusions subclinical hypothyroidism and immune deficiency in a 13-year-old
Real-world data from NordiNetwIOS and the ANSWERw Program support a female: a case report
favourable safety profile of GH therapy in patients with NS, specifically regarding Prashant Kumar Verma, Sonalika Mehta, Swathi Chacham &
cardiac safety events. As with other real-world studies, some comorbidities and Nowneet Kumar Bhat
safety events may have been under-reported. All India Institute of Medical Sciences, Rishikesh, India
Introduction
STAT5 proteins are components of the common growth hormone and interleukin-
2 family of cytokine signaling pathway which is a critical molecule involved in
growth hormone receptor (GHR) signal transduction, mediating the growth-
promoting actions of the GHR. In addition to its role in GHR signal transduction,
STAT5B is also involved in the immune system as an important mediator of
P73 interleukin-2 action and disruption of this signal transduction is responsible for
Three novel Growth Hormone Receptor (GHR) splicing mutations T-cell function defects. Recently, there have been case reports on rare
causing a spectrum of Growth Hormone Insensitivity homozygous mutations in the signal transducer and activator of transcription
5B gene in patients with growth hormone insensitivity (GHI). We report a case of
Emily Cottrell1, Avinaash Maharaj1, Tasneem Ladha1, Sumana Chatterjee1,
a 13-year-old female child who presented with short stature and recurrent chest
Anna Grandone2, Grazia Cirillo2, Emanuele Miraglia del Giudice2, infections whose evaluation revealed STAT5B missense variant.
Ludmila Kostalova3, Eva Vitariusova3, Vivian Hwa4, Louise A Metherell1 Case report
& Helen L Storr1 A 13-year-old girl born of non-consanguineous marriage was referred to tertiary
1
Centre for Endocrinology, William Harvey Research Institute, Queen Mary center in view of mildly elevated serum TSH levels. She had severe growth
University London, London, UK; 2Department of Woman, Child, General retardation, eczema along with chronic respiratory disease and features of chronic
and Specialized Surgery at Universita‘egli Studi d’ella Campania ‘L. diarrhea on clinical evaluation. Because of the prolonged history of recurrent
Vanvitelli’, Naples, Italy; 3Department of Pediatrics, Comenius University infections, chronic lung disease, and severe growth retardation, immuno-
Medical School and National Institute of Child Diseases, Bratislava, deficiency and GH deficiency or insensitivity was suspected. Her basal GH
Slovakia; 4Cincinnati Center for Growth Disorders, Division of level was normal and IGF1 serum levels were extremely low. Hypothalamic–
Endocrinology, Cincinnati Children’s Hospital Medical Center, pituitary magnetic resonance imaging was normal. Moderate lymphopenia was
Cincinnati, USA observed with a reduced number of all evaluated cell lines. The levels of
immunoglobulins were within the normal limits. Molecular analysis revealed
Introduction homozygous missense variant of STAT5B gene which prognosticates probably
Growth Hormone Insensitivity (GHI) is characterised by a triad of short stature damaging by bioinformatics techniques.
(SS), IGF-1 deficiency and normal/high GH levels. ‘Classical’ GHI due to Conclusion
homozygous exonic GHR mutations results in extreme SS with dysmorphic and In summary, the presence of short stature in a child with chronic respiratory
metabolic abnormalities. Heterozygous exon 9 GHR mutations are rare and exert difficulties and immune dysfunction suggests growth hormone deficiency due to
dominant negative effects due to impairment of GHR dimerization/downstream STAT5B pathological variants. Clinical and investigational dissociation for
signalling associated with a milder GHI phenotype. Only seven previous GHR growth hormone deficiency associated with immunological defects are strongly
dominant negative defects have been identified. suggestive of a mutation in STAT5B gene and should trigger an investigation for
Objective defects in this gene.
To identify the genetic cause of growth failure in undiagnosed patients with GHI DOI: 10.1530/endoabs.66.P74
phenotypes.

P75 136 IU/l (90–300), AMH 28.1 (5.5–103). LHRH-test: peak LH 11.2, FSH 12.8.
Growth and growth hormone abnormalities in bartter syndrome Bone-age was 1 year delayed. MRI showed a small pituitary gland.
types 3 and 4 Levothyroxine was started and increased gradually. Primed glucagon test showed
Philippa Prentice, Detlef Bockenhauer & Mehul Dattani undetectable GH but with suboptimal FT4 (7.3 pmol/l). Later, a primed insulin
tolerance test (ITT) showed a low GH peak (4.21 mcg/l). His growth and puberty
Great Ormond Street Hospital, London, UK progressed with quickly enlarging testes to 30 ml. Sequencing of IGSF1 revealed
a previously undescribed hemizygous pathogenic variant c.3343C>T
Introduction p.(Gln1115*) causing frameshift and premature stop codon. The identified
Bartter Syndrome types 3 and 4 (BS3/4) are rare tubulopathies, caused by IGSF1-mutation is not described in GnomAD. It locates to the 12th Ig-like loop in
CLCNKB and BSND mutations, which affect chloride channel function in the loop the C-terminal domain, clustering with other frameshift mutations. The mutation
of Henle and distal convolute. Historically, with late presentation and poor likely leads to abnormal glycosylation and retention of shortened IGSF1 in the ER
disease control, patients had severe short stature. Multiple case reports have also and may result in ER-stress response and cell death in the pituitary contributing to
found associations between BS3/4 and Growth Hormone deficiency (GHD). Our pituitary hormone deficiency, as previously described for GH1 mutations. Growth
aim was to investigate growth and presence of GHD in a large contemporaneous hormone deficiency (GHD) was evident on glucagon test and ITT, although
BS3/4 cohort. difficult to interpret due to hypothyroidism and obesity. GHD may be transient
Method given normalising height and IGF1, as seen previously.
Case notes were retrospectively reviewed for patients with BS3/4, seen by a UK Conclusion
paediatric nephrology service since 1984. Data collected included: anthro- We describe a novel frameshift IGSF1 mutation, resulting in most previously
pometry; endocrine testing and pituitary imaging results; GH treatment. described features: central hypothyroidism, macroorchidism, macrocephaly,
Results delayed adrenarche and puberty, GHD, obesity, fatty liver disease and higher
26 BS3/4 patients, seen as children, were identified (currently aged 2–35 years). than average birth weight. This case adds to genotype-phenotype correlations and
16 patients were not referred to endocrinology, 10 of whom are post-pubertal with highlights the importance of careful assessment for a timely genetic diagnosis.
heights between 9th and 91st centiles. Ten (38%) children were/are seen by an DOI: 10.1530/endoabs.66.P76
endocrinologist; 9 underwent GH stimulation testing. Of those with abnormal
tests (NZ6), 5 received GH treatment: 4 for GHD (peak GH 0.9–2.4 mcg/l), 1
with GH neurosecretory dysregulation. GH increased growth velocity for most,
but all have current/final height below 25th centile. Another has possible GH
dysregulation (peak GHO40 mcg/l). The remaining stimulation tests showed:
borderline low (6.7 mcg/l), normal (8 mcg/l) and borderline high (16.2 mcg/l) GH
peaks. 4 children had MRIs. 2 GHD children had pituitary stalk thickening/pos-
sible thickening (one with absent posterior pituitary); 2 children with possible GH
dysregulation (1 taking GH) had small anterior pituitary glands (with absent
pituitary bright spot/optic nerve enlargement).
Conclusion
We report a high prevalence (23%) of GH disorders in BS3/4, with 20% of the
P77
cohort prescribed GH to date. Conversely, BS3/4 per se does not seem to cause Observed effects of growth hormone doses on height in patients with
growth failure, with many attaining normal final height. The pathophysiology of Prader Willi Syndrome
GHD is unknown, but may relate to the severe electrolyte/acid-base abnormalities Kun Hu1, Ruth Krone1, Rebecca Follows1, David Marks2 &
in BS3/4. GH dysregulation is a novel finding in BS3/4, and the heterogeneity of Timothy Barrett1
1
pituitary images is striking and not previously reported. These suggest possible Birmingham Children’s Hospital, Birmingham, UK; 2Royal Orthopaedic
abnormalities in pituitary development, GH production and/or regulation in Hospital, Birmingham, UK
BS3/4.
DOI: 10.1530/endoabs.66.P75 Introduction
Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally
inherited genes on chromosome 15q11-13. It is characterised by neonatal
hypotonia, childhood obesity, hypogonadism, cognitive and behavioural
disabilities, and development of scoliosis. We aimed to review the impact of
growth hormone (GH) doses, scoliosis and IGF1 levels on height gain in children
with PWS.
Methods/design
Retrospective observational study of thirty-eight children with PWS on GH, from
P76 a tertiary paediatric centre, with up to 10 years follow-up. Data were collected on
growth hormone doses, scoliosis, height SDS and IGF1 levels. IGF1 levels higher
A new frameshift mutation in immunoglobulin superfamily, member 1 than 2 standard deviations classified as high. Height gain calculated from the
(IGSF1) results in central hypothyroidism, delayed puberty and GH height SDS before starting GH; including children restarting GH after a period of
deficiency stopping.
Blackburn James1,2, Birgit van Meijgaarden3, Shahida Ahmed3, Results
Carles Gaston-Massuet2 & Evelien Gevers2,4 In the non-scoliosis group, mean GH dose was 23 mg/kg per day (S.D. 8). Mean
1
Paediatric Endocrinology Department, Barts Health NHS Trust – The height SDS gain was: K0.30 in the year before GH (baseline); C0.70 after 1 year
Royal London Hospital, London, UK; 2Centre for Molecular on 15–25 micrograms/kg/day (nZ14); and C0.39 on >25 mg/kg per day (nZ12)
Endocrinology, William Harvey Research Institute, Queen Mary University (both P!0.02). In the scoliosis group, mean GH dose was 20 mg/kg per day (S.D.
of London, London, UK; 3Department of Paediatrics, Basildon and 6). Mean height SDS gain was: K0.33 at baseline; C0.22 after 1 year on 15–
Thurrock University Hospitals NHS Trust, Basildon, UK; 4Paediatric 25 mg/kg per day (nZ12) (PZ0.04), and C0.04 on >25 mg/kg per day (nZ2),
Endocrinology Department, Barts Health NHS Trust – The Royal London (PZ0.09). After 2 years on GH, the mean height SDS gain in all children: without
Hospital, London, UAE scoliosis (nZ20) was C0.9; and with scoliosis (nZ17) was C0.28, (P!0.03).
After 5 years, height SDS gain was C1.24 and C1.02, respectively (PZ0.62).
Background No significant differences in mean GH dose between the normal IGF1 group
Central hypothyroidism (CeHT) is uncommon in children. CeHT is often part of (nZ12) and high IGF1 group (nZ23), 19 mg/kg per day and 16 mg/kg per day,
multiple pituitary hormone deficiency but can occur in isolation, and may respectively (PZ0.47). After 2 years on GH, mean height SDS gain was C1.21 in
occasionally be due to mutations in TSHB, TRHR or IGSF1, involved in TRH the normal IGF1 group and C0.4 in the high IGF1 group (P!0.01). After 5 years
signalling. We present an adolescent with a novel truncating mutation of IGSF1. of treatment, the height SDS gain was C1.15 in normal IGF1 group and C1.03 in
Case presentation high IGF1 group (PZ0.7)
A 15-year-old male was referred for pubertal delay, obesity and abnormal TFTs Conclusions
(FT4 (6.5 pmol/l [8.4–19.1], TSH 3.23 mU/l [0.3–5.0]). He was born breech, birth Scoliosis and high IGF1 appeared to have minimal effects on height gain in the
weight 3.7 kg (C0.32 SDS). At age 2, weight was 11 kg (K1.38 SDS), height long term. Height gain on 15–25 mg/kg per day of GH was not inferior to higher
85 cm (K0.75 SDS), head circumference 52 cm (C2.30 SDS). Medical history: doses. Further research to review whether lower GH doses may be used in future,
raised ALT and liver steatosis. Examination: Height 166 cm (K0.52 SDS), BMI and implications for side effects and cost-effectiveness.
38.5 kg/m2. Tanner staging P1G1A1, 8 ml testes. Investigations: LH 0.7 IU/l, DOI: 10.1530/endoabs.66.P77
FSH 4.1 IU/l, Testosterone 7.6 nmol/l, IGF1 11.2 ng/ml (13.5–66), prolactin

P78
Investigations
Cranial diabetes Insipidus and anterior pituitary hormone deficiencies
following ‘minor’ concussive sports head injury Serum Ferritin 10 212 mg/l (23–540)
Krystal Fox, Ved ARYA, Ritika Kapoor, Simon Aylwin & Follicle stimulating hormone 0.6 iu/l (1.0–10.0)
Charles Buchanan Testosterone level 0.4 mmol/l (9.4–37.0)
KCH NHS Foundation TRust, London, UK Sex hormone binding globulin 130 nmol/l (15–40)
Luteinising Hormone 0.5 iu/l (1–9)
IGF1 66 mg/l (105–346)
Introduction Prolactin 44 miu/l (50–400)
Cranial Diabetes Insipidus (DI) presenting in children beyond infancy is most Cortisol 188 nmol/l (138–620)
commonly associated with sellar/suprasellar tumours and severe traumatic brain 17-Beta Oestradiol 72 pmol/l (0–130)
injury or haemorrhage. Less frequent causes may be genetic or idiopathic. HbA1c 79 mmol/mol (!42)
Exceptional cases may be associated with minor head injury. We present a case of
post-concussive head injury with DI, and anterior pituitary hormone deficits.
Case
15 year old malesustained a concussive head injury (foot to head) playing rugby.
Probable brief loss of conscious, and noted to have transient divergent squints
before promptly transferred to local hospital emergency department. Neurological GHRH (Somatorelin) L-arginine stimulation test
examination there reportedly normal; CT head no evidence haemorrhage/contu-
sion injury.Patient allowed home. Overnight he developed nocturia, excessive Time GH(mg/l) IGF-1(mg/l) Glucose mmol/l
thirst and progressive polyuria. Over next 3 months he would drink ~ 2.5 l water
overnight, and 4–5 l daytime. He developed progressive daytime fatigue, stopped K15 0.3 66
all sports and gym, would sleep in the afternoon after school, come home early or 0 0.4 9.2
miss school through lack of energy. He experienced diffuse headaches, often felt 30 12 12.1
nauseated on rising in the morning, and dizziness on standing. He shaved less 60 6.3 12.4
frequently, lost appetite and weight. Referred to local Paediatrician at 3 months 90 3.2 11.4
post-injury; investigations consistent with DI (Na 146 mmol/l x2, SeOs- 120 1.4 11.0
mo297/UOsmo 101), with normal Calcium and Glucose. Cortisol(1000 h) 150 0.5
61 nmol/l (Normal>150). While undergoing these tests he was admitted as an
emergency with tonsillitis, tachycardic and prolonged capillary refill,looking
exceptionally unwell. Overnight IV fluids were required to stabilise. MRI MRI abdomen/thorax: hepatic and myocardial iron overload, absent spleen, signal
brain/pituitary revealed absent posterior pituitary bright signal; no other reduction for pancreas and bone marrow. MRI Pituitary: little signal intensity on
significant abnormality. On referral to our Endocrine service: Height 181.2 cm T1-weighted imaging and no signal intensity on T2-weighted imaging in the
Weight 70 kg Additional investigations: Na 145 mmol/l, fT4 7 pmol/l/TSH anterior lobe. Overall appearance suggestive of pan-hypopituitarism 2nd to
0.1 mIU/l, Cortisol!30 nmol/l (1300 h),Testosterone 0.3 nmol/l, Prolactin haemochromatosis. Bone age X-ray: Guryleich and pyle: 14–15 years old.
1900 mIU/l(NR!410), IGF-1 16 nmol/l(6–68); BHCG/AFP undetectable. Chronological age is 18 years. Spine bone density 0.691 g/cm2 with Z-score of
Pituitary MDT conclusion: Panhypopituitarism with DI secondary to stalk K4.0 Management: Iron chelation due to severe risk of heart failure: IV Desferal
transection; raised Prolactin resulting from loss of dopaminergic inhibitory at 60 ml/kg/day 24 h, 7 days/week, Deferiprone 100 mg/kg per day. Endocrine
tone.Highly probable secondary to concussive head injury in view of coincident management: Genotropin 1.6 mg (0.035 mg/kg per day) for a year, Testosterone
timing of DI symptom onset and lackof other pathology. Management:Hydro- 75 mg, monthly for 6 months. Diabetes management: Degludec and Insulin
cortisone, DDAVP and Levothyroxine replacement with symptomatic relief; Aspart, total daily dose 46 Units. A case of Beta thalassaemia major and long-
awaiting addition of testosterone and growth hormone. term suboptimal treatment leading to T1DM, partial hypopituitarism (growth
Conclusion hormone deficiency, hypogonadotropic hypogonadism) secondary to hemosi-
Sports injury related concussion may rarely be associated with potential life derosis demonstrating endocrine sequelae and subsequent endocrine management
threatening sequelae. Appropriate post-injury surveillance may be required. ameliorated the comorbidity.
DOI: 10.1530/endoabs.66.P78 DOI: 10.1530/endoabs.66.P79
P79 Thyroid
A case of 17 years old beta thalassaemic boy with polyendocrinopathy
secondary to hemosiderosis P80
Tatyana Moshanova, Ragini Bhake, Amy Webster & James Greening Incomplete isosexual precocious puberty with macroadenoma: a rare
Leicester Royal Infirmary Hospital, Leicester, UK presentation of primary hypothyroidism (Van Wyk-Grumbach
Syndrome)
Sonalika Mehta, Nikhil Rajvanshi & Prashant Kumar Verma
The main-stay management of Beta thalassaemia major is blood transfusion but All India Institute of Medical Sciences, Rishikesh, India
this carries a risk of endocrinopathy from hemosiderosis in endocrine organs. Iron
chelation therapy aims to mitigate this risk. Access to this therapy isn’t available
in some healthcare systems. Known Syrian refugee diagnosed with Beta Introduction
thalassaemia major in infancy referred via the refugee medical services for Precocious puberty occurs is associated with initial increase in linear growth and
thalassaemia management. There was previous history of intermittent transfusion acceleration of bone maturity presenting as advanced bone age with early
support and poor chelation therapy management. Pallor, icterus, prominent epiphyseal fusion which ultimately results in short stature. ‘Van Wyk Grumbach
maxillae, short stature, weight loss and delayed secondary sexual characteristics Syndrome’ (VWGS) is a rare syndrome associated with incomplete isosexual
(A1, P2 G2, 3 ml testes bilaterally) were noted on examination. precocious puberty and macroadenoma seen in cases of longstanding, untreated
hypothyroidism is associated with a delayed bone age .Complete resolution of all
the features is seen after starting thyroid hormone replacement therapy.
Case report
Auxology An 8-yr-old girl child presented with history of cyclical vaginal bleeding for last 2
months. Her weight was 29 kg (75th–90th centile) and height was 119 cm (at
Parameters Results Centiles 10th–25th centile). Her breast was tanner stage 4 with no axillary or pubic hair.
Height 150.5 cm !0.4 Hormonal investigations revealed high FSH 3.02 mIU/ml (0.30–2.00 mIU/ml);
Weight 46 kg !0.4 low LH: 0.02 mIU/ml (!0.10–6.00 mIU/ml); elevated Prolactin: 195.46 ng/ml
(2.80–29.20 ng/ml), TSH: 750 mIU/ml (0.35–5.50 mIU/ml); low T3: 28.83 ng/dl

(60.00–181 ng/dl) and low T4: 0.06 mg/dl (4.50–12.60 mg/dl). CEMRI Brain Introduction
showed enlarged sella with a suprasellar mass suggestive of macroadenoma It has been documented that autoimmune thyroiditis (AT) predisposes to the
measuring 1.6(1.5 cm. Her radiological investigations revealed bone age of 5 development of papillary thyroid cancer (PTC). The presence of chronic
years (Greulich and Pyle’s atlas). USG whole abdomen was normal. USG neck inflammation was thought to act as an initiating factor in carcinogenesis.
showed no abnormality. Anti TPO levels were !28.0 U/ml (!60.00 U/ml). Moreover elevated levels of TSH found in hypothyroid patients with AT were
Levothyroxine supplementation was started following which FSH, Prolactin and speculated to stimulate follicular epithelial proliferation and thereby promote the
Thyroid Function Tests returned to normal levels. Repeat CEMRI Brain after 10 development of PCT.
months showed complete resolution of macroadenoma. Vaginal bleeding stopped Case
after 2 cycles and she again started having regular menstrual cycles at 12 years of We describe a case of two sisters aged 12 year and 14 year who were diagnosed
age. At 13 years of age, her weight is 60 kg (90th–97th centile) and Height is with multinodular goitre and hypothyroidism secondary to AT two years prior to
148 cm (at 25th centile) and having Tanner stage 4 Breast development with their referral to tertiary endocrine centre for further investigation and manage-
regular menstrual cycles. Mechanism postulated in VWGS which was attributed ment of their multinodular goitre. They both had positive TPO antibodies and
to a hormonal overlap in pituitary feedback mechanism. TSH, FSH, LH and were commenced on levothyroxine. A repeat thyroid ultrasound and fine needle
human chorionic gonadotropin (hCG) are glycoprotein hormones which share a aspiration (FNA) on 14 year-old girl confirmed features consistent with AT
common alpha subunit but different beta subunits. Thus, TSH, in high (Thy2). She’s remained asymptomatic and stable on the same dose of
concentrations, stimulates the FSH receptor leading to an increase in gonadal levothyroxine 75 mcg once daily. However her 12 year-old sister was found to
size and precocious puberty. have hypoechoic nodule 7!1.3 mm with multiple hypoechoic foci, compatible
DOI: 10.1530/endoabs.66.P80 with calcification on a repeat thyroid ultrasound. Her FNA raised a high suspicion
of PTC. A repeat USS and FNA confirmed metastatic PTC. Therefore she had an
elective total thyroidectomy with neck dissection followed by radioactive iodine
ablation few weeks later which didn’t reveal pathological uptake. Postoperatively
she developed a temporary hypocalcaemia managed with calcium, vitamin D and
alfacalcidol, which were gradually weaned down when her PTH recovered and
calcium normalised. Moreover her levothyroxine was gradually increased to
125 mcg once daily in order to suppress TSH!0.1 mU/l.
Conclusion
P81 We present an interesting case of two siblings with multinodular goitre and
The neonatal screen that cried Wolff hypothyroidism secondary to AT, one of which developed PTC on a background
Fabiola D’Ambrosio1,2, Laika Nur3, Stelios Mantis1 & Carla Z Minutti1 of thyroiditis. Although PTC is rare in childhood and caused association between
1 AT and PTC remains elusive, based on evaluation of current literature, it would
RUSH University Children’s Hospital, Chicago, USA; 2Children’s be prudent to rule out malignancy in nodular autoimmune thyroiditis. Therefore it
Hospital of the University of Illinois, Chicago, USA; 3University of is recommended the thyroid ultrasound and FNA to be performed by experienced
California, San Diego, USA radiologist, especially when there is a suggestion of abnormal follicle appearance,
which will help to confirm the diagnosis and initiate an early referral for surgical
Introduction intervention.
Hypothyroidism is one of the major causes of preventable mental retardation. DOI: 10.1530/endoabs.66.P82
Neonatal screening aids in the prompt diagnosis of newborns with congenital
hypothyroidism. There are other clinical conditions that can alter thyroid function
during the newborn period, including exposure of high iodine concentrations.
Case presentation
One day old female born at 37 3/7 weeks of gestational age by C-section with
imperforated anus and congenital heart disease was transferred to our children’s
hospital within the first day of life for a hybrid cardiac procedure of bilateral
pulmonary artery banding and PDA stenting. She had an Illinois Neonatal screen
done at 36 h of life that was normal. Her cardiac surgery was performed at 10 days
of life, where she was exposed to iodine products transdermally. At 14 days of
age, she had a repeat Illinois Neonatal screen that was positive for congenital P83
hypothyroidism with a TSH of 78 mIu/ml (normal ! 20 mIu/ml) and reflex total Congenital hypothyroidism: screening, diagnosis, treatment & follow
T4 of 5.4 ug/dl (normal is > 8 ug/dl). No family history of thyroid disease; mother up – evaluation of service provided in a District General Hospital
was healthy during pregnancy and was not on medications that could affect baby’s Nandini Dasgupta, Muhammad Javed & Bashir Muhammad
thyroid function. Subsequent serum laboratory testing confirmed a TSH of Walsall Healthcare NHS Trust, Walsall, UK
74.3 mIu/ml and Free T4 of 0.6 ng/dl (6.0 ug/dl). Patient was diagnosed with
Wolff–Chaikoff effect, which is the phenomenon of transient hypothyroidism
caused by exposure to high doses of iodine (iodine containing contrast agents or Background
topical antiseptics). Pediatric Endocrinology was consulted and she was started on Screening for Congenital hypothyroidism is part of National New-born screening
25 mcg of levothyroxine PO daily. The patient was last seen at 21 months of age program. Each District General Hospital is required to have a Congenital
by Pediatric Endocrinology. She is still on the initial dose of levothyroxine and Hypothyroidism Service with a Lead Paediatrician and a Deputy to provide
her thyroid labs have been within normal limits for an infant. She will likely not seamless service to babies with suspected congenital hypothyroidism and their
require lifelong thyroid supplementation. families. National guidelines and service standards exist to guide setup, operation
Conclusion and auditing of this service.
Risk of hypothyroidism among neonates must be considered seriously after large Aim
iodine exposure and monitoring for transient hypothyroidism should be We aim to benchmark the performance of our congenital hypothyroidism service
performed. It is thus recommended that attempts should be made to reduce the against local and national guidelines.
amount of iodine used during procedures and to carefully monitor thyroid Materials and methods
function in all neonates exposed to an excess of iodine. We studied timeliness of organising physical review, blood tests, scans, initiation
of treatment and follow up of these patients. We planned it as a retrospective audit
DOI: 10.1530/endoabs.66.P81 including all patients referred with suspected congenital hypothyroidism between
2002 and 2018. The list of patients was cross-checked with Regional Screening
Laboratory to ensure all cases were included. The data was collected from
hospital notes and laboratory system computers using a standardised pro forma.
Results were analysed and presented in graphical form.
Results
Total 38 cases were identified. In 100% cases, contact with family was made
within 48 h of receiving notification from screening laboratory. All patients were
seen and started on treatment if required within 48 h of notification (66% seen on
P82 the same day and 34% seen on the next day). The starting dose of levothyroxine
Siblings with multinodular goiter and autoimmune thyroiditis was correct as per guidelines in 100% of the cases. The future clinic follow-up
Ellada Sotiridou, T Kurzawinski, Catherine Peters & Caroline Brain scheduling did not conform to the national guidance. This was felt to be secondary
Paediatric Endocrinology Department, Great Ormond Street Hospital, to reduced capacity in out-patients clinic. However, 100% of these patients had
London, UK blood tests done and dose change actioned on telephone.

Conclusion Conclusion
Overall, our service achieved excellent performance in initial workup and Low levels of vitamin D may be the primary factor involved in the pathogenesis
initiation of treatment of all cases. However, future follow up scheduling needs of the disease. Further in-depth study of this problem is needed in order to develop
improvement. This is one area where the concept of Virtual Clinic can deliver effective methods of treatment of Grave’s disease in children.
good results. The local team is in discussion with the Trust to pilot Video clinics DOI: 10.1530/endoabs.66.P84
in this service.
P85
Paediatric Graves disease – management in a District General Hospital
Vidya Viswanath & Cristina Matei
East and North Hertfordshire Trust, Stevenage, UK
Background
Graves disease is the most common cause of hyperthyroidism or thyrotoxicosis
P84 in children. The prevalance is 1 in 10 000 among children. It is important to
Deficiency of vitamin D as a potential factor of the development of reinforce the awareness amongst clinicians as patients can present with wide
Graves’ disease in children and adolescents range of clinical symptoms. The range of presentations in our study included a
Shakhlo Muratova child treated for one year for Attention Deficit Hyperactivity Disorder (ADHD) to
a child who had diarrhoea and abdominal pain and presented as appendicitis
Republican Specialized Scientific and Practical Medical Center of initially.
Endocrinology named after academician E.Kh.Turakulov of the Ministry of Methods
Health of the Republic of Uzbekistan, Tashkent, Uzbekistan Retrospective review of notes and clinic letters of 15 patients who presented as
hyperthyroidism in last 6 years (2013–2019). Inpatient and outpatient notes along
Goal with lab results were used for data analysis.
To determine the level of vitamin D and its pathogenetic role in children with Results
Grave’s disease living in the territory of Uzbekistan. The study included 16 11/15 patients were confirmed to have Graves disease. 2 patients had false
children and adolescents of 9–17 years old with the first time identified Grave’s elevation due to Assay Interference. 1 had Hashimoto Thyroiditis and 1 had
disease. The control group included 12 children without thyroid pathology. The hyperthyroidism diagnosed on annual review of coeliacs disease. Age at diagnosis
concentration of total vitamin D, TSH, fT4 and Antibodies to TSH receptors of our cohort ranged between 4 and 15 years, with age of 11–14 years for children
(TRAb) in serum was determined using a Cobas e 411 Hitachi closed-type with Graves. 9/11 children with Graves disease were clinically thyrotoxic and
immunochemical analyzer from HoffmanLeRoche (Switzerland) and its reagents. required beta blockers, 5/11 had eye signs at presentation. Thyroid stimulating
Vitamin D deficiency was determined at its serum level !20 ng/ml, insufficient at immunoglobulins (TSI) or TSH receptor Antibodies (TRAB) were used for
a level of 20–30 ng / ml. Statistical processing of the results was performed using confirmation of Graves. Ultrasound Scans were done in cases of Graves disease
the Microsoft Statistica 6.1. The significance of differences was established at which confirmed Thyroiditis. They were normal in Hashimotos thyroiditis.
P !0.05. Antithyroid medications (ATM) were started initially on 13/15 patients.1-not
Results started due to assay interference and the other was clinically and biochemically
At the time of the first treatment, all children with Grave’s disease had a euthyroid. 3/11 had definitive treatment, 1 patient underwent total thyroidectomy
pronounced clinic of moderate thyrotoxicosis in a state of decompensation, all and 2 had radioiodine ablation. 6/11 children are having ongoing dose titration
patients have high TRAb values, the interval of which was 2.5–40.0 IU/l with a with carbimazole and 2 children currently on block and replacement. Tertiary
median (Me) of 11.6. Despite the fact that the number of sunny days per year referral was done in 11/15 cases.
exceeds 300, the content of vitamin D (15.7G4.7 ng/ml) in children with newly Conclusion
diagnosed Grave’s disease was significantly lower than the control group (29.3G We have relatively large group of patients with Graves Disease for our
4.8 ng/ml, P !0.05). All children with thyrotoxicosis had an indicator of vitamin population. Patient presentation was mostly with typical symptoms and signs but
D in the serum of less than 30 ng/ml, while a pronounced deficiency of vitamin D was nonspecific in few others leading to a delay in diagnosis. Most of our patients
was detected in 68.8% (11), the remaining 31.2% (5) had insufficient levels. In the are treated with Dose titration (DT) regime.Emerging evidence suggests that
control group of children with vitamin D deficiency it was not diagnosed, but longer treatment on ATM might increase chance of remission.One of our patients
66.7% (8) had insufficient serum levels. The results of the correlation analysis who underwent thyroidectomy had in situ papillary carcinoma.
indicate the presence in patients with Grave’s disease significant feedback DOI: 10.1530/endoabs.66.P85
between the content of vitamin D and the level of TRAb (r Z K0.38; P !0.05).

Author Index
Abali, Z OC1.1 Basu, S P26 Chan, L OC5.9 De, S P35
AbdulBagi, S OC5.9 Batchelor, H OC8.2 Chandler, C OC2.1 & Deakin, M OC7.4
Abdullah, M OC5.9 Bath, L P33 & P52 OC4.4 Denial, M OC7.9
Abid, N P63 Beckett, R P15 & P63 Chang, Y-C OC2.1 Denvir, L OC8.3 & P49
Abuzzahab, J P72 Bendor-Samuel, O OC6.3 Chatterjee, S OC4.7 & P73 Dharmaraj, P OC4.2 &
Acerini, CL OC4.9 Benitez-castillo, M P17 Chauhan, H OC5.8 P7
Adeniyi, F P43 Bertola, D OC4.7 Cheetham, T OC4.9 Dias, R P36
Adler, B P11 Besser, R P26 Chetty, T DS2.2 & P52 Diskin, L P28
Aftab, S OC5.5 Bhake, R P79 Cheung, M ND2.1, OC4.2, Drew, S P20
Agwu, C OC4.7 Bhansali, A OC4.4 P7, P8 & P14 Drimtzias, E OC2.1
Ahmad, A OC4.4 Bhat, NK P74 Cheyette, C DS1.2 Drummond, L P19
Ahmed, MI P59 Biagetti, B OC4.4 Childs, A OC6.1 D’Souza, N P64
Ahmed, SF OC1.1, OC5.7 Bird, L P28 Cirillo, G P73 Dublon, V P17
& OC4.9 Birkebaek, NH OC1.1 Claahsen - van der Dunkel, L OC4.3
Ahmed, S P16 & P76 Bishop, F OC7.3 Grinten, HL OC1.1 Dutta, P OC4.4
Ajzensztejn, M P55 Biss, C P19 Clayton, P OC4.1 & OC5.1 Dyban, M OC7.6
Alanoor, R P27 Blackburn, J OC4.4 Clemente, M OC6.5 Dymond, E OC7.3
Albanese, A CME2.1 & Blair, J P72 Cocca, A P14 & P8
OC2.1 Blankenstein, O OC1.1 Cole, M P29 Eddy, D OC4.6 & P6
Alcheikh, M P63 Boal, R OC7.3 Colman, G P17 Edmonds, C P28
Alderson, J CME1.2, OC4.6 Bockenhauer, D OC5.4 & Colyer, S OC8.1 Edwards, H P28
& P6 P75 Connolly, G P63 Einaudi, S OC1.1
Aleem, M OC5.2 Bonfig, W OC1.1 Connor, P OC4.2 & P7 El-Khairi, R P9
Alexander, S P32 Bonifacio, E OC6.3 Cooke, R OC4.1 El-Kholy, S P31
Alimussina, M OC5.7 Borysewicz-Sańczyk, H Cools, M OC1.1 Elbashir, N P36
Alseed, N P43 OC2.2 Costa, E OC1.1 Elder, C OC7.9 & OC8.1
Alvi, S OC4.9 Bossowski, A OC2.2 Cottrell, E OC2.2, OC4.5, Elford, S PENS1.3
Ambridge, J P17 Bound, C P45 & P50 OC4.7 & P73 Elsedfy, H OC1.1
Amin, R P20 Bowker, T OC7.4 Coulthurst, J P59 Erlandson-Parry, K P71
Anderson, G OC8.4 Bradshaw, K P28 Cox, K P33 Evanson, J OC4.4
Annan, F DS1.1 Brain, C P82 Coxson, E P28, P70 Exall, J OC3.1
Apperley, L OC6.5 & P71 Braslavsky, D OC4.8 Cropper, J OC7.3
Aquilina, K OC2.1 Bray, D P51 Crowne, E OC4.6, OC4.9, Farewell, D OC7.1
Aras, T P10 Bretland, C OC6.4 P6 & P29 Farndon, S OC2.1
Argente, J OC4.4 Brezovjakova, H P24 Crowne, EC OC5.1 Farquharson, S P40
Arundel, P OC4.2 & P7 Buchanan, C OC1.2 & P78 Cunjamalay, A P20 Fiddes, C P40
Arya, V P78 Buchanan, CR OC5.3 Finken, MJJ OC1.1
Arya, VB OC1.2 & OC5.3 Bucknall, C OC7.6 Dahlgren, J P72 Fletcher, G P45
Ashraf, MM OC8.4 Buggins, S OC3.1 D’Ambrosio, F P81 Follows, R OC8.5 & P77
Atapattu, N OC1.1 Bulfamante, AM OC4.4 Daniel, E P16 Fong, R P28
Attwood, M P5 & P67 Bulfamante, GP OC4.4 Daniel, R OC7.1 Fox, K OC1.2 & P78
Audi, L OC4.4 Burns, M P56 & P58 Daousi, C OC2.1 Francks, R P16
Aylwin, S OC1.2 & P78 Burren, C OC4.2 & P7 Darby, A OC7.9 Freund, K P44
Ayoede, K OC5.2 Butler, G OC4.1 Darendeliler, F OC1.1
Das, U OC4.9 & P71 Gamble, A OC2.1
Bachega, TSS OC1.1 Cabrera, CP OC4.3 Dasgupta, N P83 Gan, H-W OC2.1 & P3
Bacila, I-A OC1.1 & OC4.9 Calvert, J P38 & P66 Datta, V P27 & P54 Garcia, MI OC4.3
Bacon, C OC3.1 Campbell, F OC7.3 Dattani, M OC4.4, OC4.9, Gardiner, T P29
Balsamo, A OC1.1 Candler, T DS3.2 OC5.1, OC5.5 & P75 Gardner, C P46
Barkas, K OC2.1 Cariboni, A OC4.3 David, A OC4.3 Gartner, A OC7.1
Barnes, MR OC4.3 Carson, M P46 Davies, J OC8.2 Gaston-Massuet, C OC4.4,
Barret, T P19 Carter, H P28 Davies, JH OC4.9 OC4.7 & P76
Barrett, T OC8.5, P36, P77 Casas, J OC4.8 Davis, N OC7.2 & P4 Gelder, C OC3.1
& S3.3 Cazeaux, A P4 Dawnay, A P3 Gevers, E CME3.2, OC4.9,
Barton, J OC4.2, P7 & P68 Chacham, S P74 de Vries, L OC1.1 OC7.7, P9, P37 & P76

Ghatak, A OC7.4 Jordan, K P45 & P50 Maeshima, R P5, P67 Natarajan, A P30
Ghauri, RI P55 Júlı́usson, P P72 Maharaj, A OC4.8, OC5.9 Nathwani, N P11
Gilbey-Cross, R OC4.2, P7 & P73 Naydeva-Grigorova, T P60
& P8 Kalitsi, J OC5.3 Maharaj, AV OC4.7 Nelson, F P18
Giuffrida, A OC7.7 Kanumakala, S OC3.2, Mahdi, S OC4.9 Neumann, U OC1.1
Gnanalingham, K OC4.4 P48 & P57 Maiden, J P46 Newbold, S OC1.2
Goonetilleke, R P53 Kapoor, R OC1.2 & P78 Makaya, T OC5.10 & Ng, SM CME4.1, DS3.1,
Gopal-Kothandapani, JS Kapoor, RR OC4.4 & OC5.3 OC8.4 OC5.2, OC6.5, P46 &
OC5.4 Kapoor, S P35 Mallucci, C OC2.1 P51
Goycoolea, A OC4.4 Karantza, M OC4.7 Mallya, M P11, P34, P39 Nicholson, B P49
Grandone, A P73 Kassab, A P16 & P42 Niranjan, U P11
Green, S P17 Kastelan, D OC4.4 Mancini, A OC4.3 Nor, I P60
Greening, J P79 Katkat, N OC5.2 Mantis, S P81 Norman-Bruce, H P57
Gregory, J OC7.1 & S4.3 Katugampola, H OC5.5 Marcovecchio, ML OC7.5 Nur, L P81
Guasti, L OC4.3 Kelleher, A OC7.3 Marks, D OC8.5 & P77 Nurse, J P4
Gupta, S P41 Kerr, S OC8.2 Martinez de la Escalera, L Nye, A P70
Gupta, V P28 Kershaw, M P19 & P36 P25
Güran, T OC4.8 Khattak, H P48 Massa, V OC4.4 Oddy, S P2
Guran, T OC1.1 Khatun, Y P37 Massey, J P8 Orbak, R P13
Guven, A OC1.1 Kiu, E OC7.9 Matei, C P39, P42 & P85 Orbak, Z P10 & P13
Guyers, M P51 Korbonits, M OC1.1, Mathew, V P41 Ortolano, R OC1.1
OC2.1 & OC4.4 Mathias, J OC7.6 Oryan, T OC5.2
Halsall, DJ P2 Korkmaz, HA OC5.3 Mathieson, L OC4.2 & P7 O’Sullivan, S P63
Hamilton, G P63 Kostalova, L P73 McDonnell, M P63 Oyibo, I P64
Hannema, S OC1.1 Kraria, L OC5.7 Mehta, F OC7.4 Ozkan, Y P13
Hanson, F OC3.1 Krone, N OC1.1 & OC4.9 Mehta, S P74 & P80
Harrison, B OC2.1 Krone, R OC1.1, OC4.9, Mendonca, B OC1.1 Padidela, R OC4.2, OC5.6
Harrison, S P56 OC8.5, P36 & P77 Menon, S OC5.10 & P7
Hart, S P5, P67 Krone, RE P19 Metherell, L OC4.8 & OC5.9 Pak, E P69
Hawton, K P29 Kuczynski, A OC2.1 Metherell, LA OC4.7 & P73 Pal, A OC8.4
Heffernan, E P15 & P63 Kumbattae, U P12 & P65 Milenkovic, T OC1.1 Paramalingam, S P48
Hendriks, AEJ P2 Kurzawinski, T P82 Minutti, CZ P81 Paranjothy, S OC7.1
Higham, C OC1.1 Kwong, RMW P3 & P9 Miraglia del Giudice, E P73 Parau, B P32
Hill, C OC7.2 Kyprianou, N OC4.4 Miranda, MC OC1.1 Pargass, N OC6.1
Hindmarsh, P P1 Kyprios, H P28 Mitchell, J P40 Park, J OC7.4
Howard, SR OC4.3 & Kyriakou, A OC4.9 Mitchell, R OC4.4 Parmar, M OC7.2
P20 Mohamed, Z P36 Patankar, C P55
Hu, K OC8.5 & P77 Ladha, R P17 Mohnike, K OC1.1 Patel, L OC4.9
Huang, C P32 Ladha, T OC2.2, P73 Moor, N P37 Patel, S P21
Hughes, C P3 Laing, P P71 Moore, G OC4.5 Paul, P OC7.4
Hunt, L P16 Law, J OC5.8, OC8.3, P38 Morillon, P OC2.1 Peacock, A P23
Hussain, K P5 & P67 & P49 Morris, M P8 Pease Gevers, EF
Hwa, V P73 Lay, JT P46 Moshanova, T P35 & P79 OC4.4
Högler, W OC5.6 Lehal, R P47 Mueller, L P24 Pemberton, J P19
Lelliott, A P26 Mughal, Z OC4.2, OC5.6 & Perera, L P48
Lichiardopol, C OC1.1 P7 Peters, C P20 & P82
Idkowiak, J P36 Muhammad, B P21 & P83 Philip, J OC4.2 & P7
Limond, J OC2.1
Iotova, V OC1.1 Muniu, S P12, P19 & P65 Pietropoli, A P72
Logan, K P44
Ishida, M OC4.5 Muratova, S P84 Pigott, A DS1.3
Loo, H OC8.4
Iyer, D P12 Murphy, M P37 Pitkin, S P3
Lotery, H CME2.2
Low, A P30 Murphy, R DS1.3 Prasad, R OC4.8 & P37
Jacques, T OC2.1 Ludgate, M S1.3 Murphy, S P40 Preda, C OC4.4
Jain, G P34 Lumsden, D P14 Murray, P CME3.1 Prentice, P OC5.5 &
Jain, S P64 Lynton, P OC3.2 Mushtaq, T OC4.2 & P7 P75
James, B P76 Musson, P OC5.1 Procter, E P38
Javed, M P21 & P83 MacGill, K P52 Purcell, G P28
Jeyaraman, A P41 MacKenzie, C S4.2 Nadar, R OC4.2 & P7 Purushothaman, P P5 &
Jones, C P57 Madhusudhana, M P61 Nash, E P37 P67

Qamar, Y OC5.9 Schoenmakers, N S5.2 Tan, R OC4.4 Walker, A P5, P67

Semple, C P29 Tan, S OC8.3 Walker, J PENS1.1
Rai, A OC4.4 Senniappan, S OC4.2, P7 & Tapping, C P22 Warner, J OC7.6
Rajput, S P43 P71 Thankamony, A P2 Warner, JT OC7.8
Rajvanshi, N P80 Shapiro, L OC4.7 Tharian, K P61, P62 Warren, D OC2.1
Rajyaguru, V OC8.3 Sharples, K P37 Thomas, N OC1.2 & OC2.1 Wassouf, S P44, P45 &
Ramakrishnan, R OC4.2 & Shaunak, M P4 Thomas, S OC2.1 P50
P7 Shaw, N OC4.2, OC5.6 & Thorpe, N OC2.1 Watson, M P44, P45 &
Randell, T OC4.9, OC5.1, P7 Thurston, V P66 P50
OC5.6, OC8.3 & P49 Sheffield Children’s Todd, JA OC6.3 webb, C OC8.2
Rawal, S P16 Diabetes Team S4.2 Tollerfield, S OC4.1 Webb, E OC8.2 & P27
Rayner, L OC4.2 & P7 Sherman, C P4 Tomlinson, JW OC1.1 Webb, SM OC4.4
Rees, A S1.1 Shetty, A OC6.4, OC7.6 & Torales, J OC4.4 Webster, A P79
Reeves, T P31 P69 Tothill, A OC4.2 & P7 Wehkalampi, K OC4.3
Reilly, P OC6.1 & P47 Sheild, JPH DS3.2 Townson, J OC7.1 Wei, C OC5.1 & P23
Resmini, E OC4.4 Shine, B OC5.10 Trentham, S OC7.3 Whinfrey, L P30
Reynolds, S P29 Simmons, I OC2.1 Tseretopoulou, X P23 White, L P16
Ribalta, T OC4.4 Singh, H P40 Tucker, I OC4.2 & P7 Whyte, K P40
Rinn, S P29 Skae, M OC4.6 Wijesinghe, N P20
Robinson, L OC2.1 Skoric, T OC4.4 Williams, J OC4.7 &
Uday, S OC5.6 & P36
Rodgers, C OC3.1 Smith, E P57 OC4.8
Urquhart, A OC7.8
Romano, A P72 Smith, K P49 Williams, M P18
Roncaroli, F OC4.4 Snape, M OC6.3 Wilne, S OC2.1
Ross, R OC1.1 Sotiridou, E P54 & P82 van Boxel, E OC5.10 Wilson, K P18
Ryan, F OC4.9 Spagnoli, F P24 van der Kamp, H OC1.1 Win, M P53
Spence, C OC6.2 Van Meijgaarden, B P16 & Windsor, R P9
Sachdev, P OC8.3, P38, Spence, K P63 P76 Winocour, P P34
P49 & P66 Spoudeas, H OC2.1 & Vargha-Khadem, F OC2.1 Wishlade, T OC6.3
Sakha, S OC4.2, P7, P8 & OC5.4 Vass, C P28 Wong, FS S3.2
P14 Stephenson, T OC3.1 Vassert, G OC4.3 Wu, Q P32
Sampron, N OC4.4 Stevenson, J P40 Vatish, M OC6.3 Wynn-Davies, A OC5.8
Sandy, J P14 & P8 stirling, H OC8.2 Venkataramakrishnan, R
Santos, R OC5.6 & P8 Storr, HL OC2.2, OC4.5, P68
Yard, H OC6.4
Saraff, V OC4.2, P36 & OC4.7 & P73 Verma, P P80
Yusef, D P48
P7 Stubbs, F P27 Verma, PK P74
Sargant, NN P29 Study Group, G OC6.3 Vieira, S P45 & P50
Sarvasiddhi, S OC5.10 Sultana, P OC6.5 Vieites, A OC1.1 Zatchij, A P28
Savage, MO OC4.7 Sundaram, P P35 Viswanath, V P39, P42 & Zebian, B OC2.1
Sawicka, B OC2.2 Swaby, R P60 P85 Ziegler, A-G OC6.3
Sawoky, N OC4.2 & P7 Swerdlow, A OC4.1 Vitariusova, E P73 Ziemba, D P51

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Endocrine

47th Annual Meeting of the British

published by Online version available at

47th Annual Meeting of the British

Programme Organising Committee

The abstracts were marked by the Abstract Marking Panel below:

Endocrine Abstracts (2019) Vol 66

CME TRAINING DAY SESSIONS

DEBATE: SPEAKER BIOGRAPHIES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . D1.1 – D1.2

INQUISITOR SESSION: SPEAKER BIOGRAPHIES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . IN1.1 – IN1.2

PENS PRESENTATION . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . PENS1.1 – PENS1.3

DIABETES PROFESSIONALS’ DAY SESSIONS

NURSES’ DAY FOR ENDOCRINE PROFESSIONALS SESSIONS

Endocrine Abstracts (2019) Vol 66

Diabetes 5 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . P48– P55

Endocrine Abstracts (2019) Vol 66

CME Training Day Sessions

Endocrine Abstracts (2019) Vol 66

Practical points regarding the diagnosis and management of conditions affecting

Craniopharyngiomas and pituitary adenomas are the most common benign

Endocrine Abstracts (2019) Vol 66

Self-monitoring of blood glucose (SMBG) is an important part of diabetes

Endocrine Abstracts (2019) Vol 66

Endocrine Abstracts (2019) Vol 66

Diabetes Track 1: Symposium 3

Endocrine Abstracts (2019) Vol 66

Nurses’ Day for Endocrine Professionals: Symposium 5

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Endocrine Abstracts (2019) Vol 66

Debate: Speaker Biographies

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Inquisitor Session: Speaker

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Endocrine Abstracts (2019) Vol 66

Endocrine Abstracts (2019) Vol 66

Endocrine Abstracts (2019) Vol 66

Diabetes Professionals’ Day Sessions

Endocrine Abstracts (2019) Vol 66

Session 1 † To increase understanding of the presentation of eating disorders in Diabetes.

Endocrine Abstracts (2019) Vol 66

This presentation will provide an overview of the exercise physiology DS3.2

Endocrine Abstracts (2019) Vol 66

Nurses’ Day for Endocrine

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Longitudinal growth in children is determined by endochondrial ossification at

Abstract unavailable Abstract unavailable

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Endocrine Abstracts (2019) Vol 66

*BD – Twice daily insulin injections; CSII – Continuous Subcutaneous Insulin

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Endocrine Abstracts (2019) Vol 66

Endocrine Abstracts (2019) Vol 66

Endocrine Abstracts (2019) Vol 66

Oral Communications 5 Results

Endocrine Abstracts (2019) Vol 66

OC5.4 pre-treatment was 3.66(1.75–6.46)cm/year. With rhIGF-1, maximal HV occurred