FOCUS | CLINICAL

A guide to differences/
disorders of sex
development/intersex in
children and adolescents

Komal A Vora, Shubha Srinivasan DIFFERENCES/DISORDERS of sex development consensus about nomenclature and
(DSD) or ‘intersex’ encompass a wide optimal management. Promoting a
range of conditions usually presenting non-binary view of sex and gender can be
Background
in the newborn period or adolescence. helpful to work towards common goals of
Differences/disorders of sex
development (DSD) or ‘intersex’ Most are relatively rare, and the overall optimal care. There is limited evidence
encompass a broad range of congenital incidence depends on which conditions are to support and/or guide clinical decision
variations in the complex pathways included; for example: making that involves the consideration
involved in the development of sex • Klinefelter syndrome (47,XXY) – one in of medical, human rights, ethical and
characteristics. Components of these 450 births of male infants1 legal aspects.5 Moreover, there has
pathways include sex chromosomes,
genes involved in gonadal development,
• discordance between phenotypic been considerable debate regarding
hormone production and action, and the
and genotypic sex at birth – one in the indication and timing of surgical
development of internal and external 4500–5500 births2 interventions for minors with DSD.
genital structures. Many variations are • congenital adrenal hyperplasia (CAH) – Clinical features and underlying
rare, and some (eg congenital adrenal one in 14,000 births3 pathophysiology vary from one individual
hyperplasia) are associated with urgent • complete XX or XY sex reversal – one in with a DSD to another. As a result,
medical needs. People born with 20,000 births2 presentations can range from atypical
variations in sex characteristics may
present in the neonatal period with
• ovotesticular DSD – one in 100,000 genitalia in infancy to atypical pubertal
atypical genitalia, during childhood births.2 development in adolescence to fertility
and adolescence with atypical pubertal Terminology has been a source of concerns in adulthood. Throughout the
development or in adulthood with dissatisfaction among many affected lifespan, there can be challenging and
hormone imbalance, fertility issues individuals, with some peer support sensitive discussions and decisions, such
and/or sexual health concerns. groups having a strong preference for as the appropriate sex of rearing, gender
Objective ‘intersex’ over ‘DSD’,4 while others identity, potential for future adult sexual
An overview of DSD is presented in actively dissociate from the term functioning and fertility. Healthcare
relation to presenting features and ‘intersex’. Clinicians generally avoid professionals may face pressure for
management challenges in the either term when speaking with affected urgent diagnosis and management at
paediatric population. individuals and their families, choosing presentation but also need to consider a
Discussion to use terminology based on the diagnosis medium-term and long-term plan with the
An experienced multidisciplinary team whenever possible (eg CAH, Klinefelter child/adolescent and family in the context
that uses a shared decision-making syndrome). However, DSD/intersex can of the social and cultural environment.
approach with a medical, surgical, be useful umbrella terms in the context Psychological support should be provided
ethical, psychological and human rights of medical literature and policy. The throughout the patient journey.
framework is required to maximise long-
diverse clinical features, pathophysiology As a result of the rarity of many
term positive outcomes for people born
with variations in sex characteristics. and management challenges in DSD conditions, data on long-term outcomes
have compounded efforts to reach are limited, and patient groups as well

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FOCUS | CLINICAL A GUIDE TO DIFFERENCES/DISORDERS OF SEX DEVELOPMENT/INTERSEX IN CHILDREN AND ADOLESCENTS

as professionals have challenged aspects ovotestis as ovaries tend to remain in requires an individualised approach taking
of clinical care that were previously pelvic position.9 DSD may also be part of into consideration prenatal androgen
considered as standard. Through greater a multisystem disorder with coexistent exposure, fertility potential, quality of
use of multidisciplinary teams (MDTs), metabolic abnormalities or dysmorphic sexual function, surgical options, gonadal
development of patient registries and features. CAH is the most common pathology/malignancy risk and potential
international collaboration, the evidence cause of genital ambiguity in infancy adult gender identity.2 Given the variation
base for the best standards of care will and should be considered in any baby and complexity of different types of DSD,
continue to develop. with genital ambiguity, shock and/or it may be difficult to extrapolate outcomes
hyponatraemia and hyperkalaemia.10 It is for each individual. Research in DSD
a potentially life-threatening condition and gender identity has only been done
Classification and diagnosis of DSD and requires urgent treatment with in larger subgroups such as patients with
The development of the 2006 consensus high-dose hydrocortisone to prevent an CAH and androgen insensitivity syndrome.
guidelines6 was a turning point in the adrenal crisis. To date, evidence suggests sex of rearing
classification of DSD, with three broad Initial investigations for genital ambiguity is an important but imperfect predictor
categories: sex chromosomal DSD, include karyotype and/or rapid polymerase of gender identity, with some additional
46,XX DSD and 46,XY DSD (Box 1). chain reaction or fluorescence in situ contribution of prenatal androgen
This resulted in the abandonment of hybridisation for Y material, glucose, exposure in male gender identity.11
misleading and pejorative terms such electrolytes, 17-hydroxyprogesterone
as ‘hermaphrodite’. Diagnosis of DSD (17-OHP), gonadotropins, oestradiol
generally involves a hormone profile and testosterone. Results should be Children and adolescents
work-up, genetic testing and visualisation interpreted in the context of the baby’s Simple virilising CAH may present in
of internal reproductive structures, gestational and chronological age. childhood with a rapid growth spurt,
through either medical imaging or The paediatric endocrinologist may exaggerated signs of adrenarche (eg pubic
laparoscopy. These investigations are request further testing including pelvic hair) and virilisation of the genitalia, with
coordinated by a member of the MDT, ultrasonography, urine steroid profile, clitoromegaly or penile growth without
often the paediatric endocrinologist.7 serum anti-Müllerian hormone, human testicular enlargement.10 A 17-OHP level,
Throughout the diagnostic work-up and chorionic gonadotropin stimulation test synacthen test and genotyping are useful
discussion of results and management and DSD gene panels. investigations for diagnosis.
plans, it is paramount that there is an Sex assignment is a dilemma in a small Presenting features of DSD in an
open and transparent discussion with percentage of patients with DSD and adolescent may include delayed puberty,
parents and affected individuals at
developmentally appropriate times.
Box 1. Summary of classification of differences/disorders of sex development
taken from the 2006 consensus statement6
Neonates
46,XY DSD
Neonates who require diagnostic work-up
• Disorders of testicular development, including partial and complete testicular dysgenesis,
include those with ambiguous or atypical
testicular regression and ovotesticular DSD
genitalia or less obvious findings such as
• Disorders of androgen biosynthesis (eg 5-alpha reductase deficiency) or action (CAIS,
bilateral nonpalpable gonads, palpable PAIS, luteinising hormone receptor defects)
gonads in labioscrotal folds, perineal • AMH disorders (eg persistent Müllerian duct syndrome)
hypospadias, undervirilised phallus, • Other disorders, including severe hypospadias and cloacal exstrophy
clitoromegaly or discordant genital
46,XX DSD
appearance to prenatal genetic test.
• Disorders of ovarian development, including ovarian dysgenesis as well as testicular
The initial evaluation should include a or ovotesticular DSD
thorough pregnancy and family history • Disorders of androgen excess of either fetal, fetoplacental or maternal origin
and clinical examination. Physical • Other disorders, including cloacal exstrophy, MURCS and vaginal atresia
examination should include evaluation
Sex chromosome DSD
of general health, hydration state, blood
Disorders related to atypical arrangement of sex chromosomes, including:
pressure and appearance of external
• missing sex chromosome (eg 45,X, as seen with Turner syndrome)
genitalia with regards to whether the
• additional sex chromosome (eg 47,XXY, as seen with Klinefelter syndrome)
labioscrotal folds are fused, the presence
• more than one type of sex chromosome arrangement (eg 45,X/46,XY or 46,XX/46,XY)
of palpable gonads, the location of the
urethral meatus and the size of the AMH, anti-Müllerian hormone; CAIS, complete androgen insensitivity syndrome; DSD, differences/
phallus/clitoris.8 Palpable gonads are disorders of sex development; MURCS, Müllerian, renal, cervicothoracic somite abnormalities; PAIS,
partial androgen insensitivity syndrome
most commonly testes and occasionally

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A GUIDE TO DIFFERENCES/DISORDERS OF SEX DEVELOPMENT/INTERSEX IN CHILDREN AND ADOLESCENTS FOCUS | CLINICAL

primary amenorrhea or virilisation of a (eg CAH) to historically low in 46,XY DSD. endocrinology, urology, gynaecology,
phenotypic female.10 Non-classical CAH Targeted gene panels have improved the genetics, psychology, ethics and/or
may have similar features to polycystic diagnostic yield to almost 50% of 46,XY hospital executive (Figure 1). With
ovarian syndrome. Physical examination DSD.13 The reducing cost and greater the patient’s/parent’s consent to share
of the external genitalia may be best accessibility of whole-exome sequencing information outside the hospital setting,
deferred and only performed by an (WES) and whole-genome sequencing communication with the family’s primary
experienced urologist or gynaecologist (WGS) may further increase the diagnostic care physician is important to nourish
under an anaesthetic. Investigations yield of genetic testing. It is paramount the therapeutic relationship in primary
include karyotype, serum electrolytes, that appropriate genetic counselling care, enable ongoing education of health
pubertal hormone profile, androgens, be undertaken for all genetic testing professionals and provide a smoother
pituitary hormone profile, adrenal and especially for potential unexpected transition to adult care.
steroid profile and transabdominal pelvic findings from WES and WGS. In some centres, prospective, systematic
ultrasonography. Magnetic resonance peer review of complex decision making
imaging and ultrasonography of internal for patients with DSD has been formalised
structures can be inaccurate, and internal Management through regular multidisciplinary meetings.
structures ‘not visualised’ does not Multidisciplinary teams An audit of the DSD MDT meetings
equate to absent structures or lack of A multidisciplinary approach to shared in Sydney (The Children’s Hospital at
future function (eg a small uterus may be decision making is considered the Westmead, Sydney Children’s Hospital)
due to lack of oestrogen effect). It may ‘crux of patient-centred care’14 and and Melbourne (Royal Children’s
only be at genitoscopy and laparoscopy involves simultaneous, but independent, Hospital, Monash Children’s Hospital)15
that internal structures are confidently contributions of team members from two highlighted a number of areas discussed
identified. The results from these or more disciplines.2 The core composition at the meetings (Box 2). The audit also
investigations need careful interpretation of the team may vary according to the age showed that an active deferral of surgery
in the context of other clinical features. of the child, DSD type and local resources, was the outcome in >20% of cases,
For example, an adolescent with primary and may include a representative from surgery was only recommended for
amenorrhoea who has normal breast
development could have complete
androgen insensitivity syndrome (CAIS)
with a 46,XY karyotype, or Müllerian
agenesis, also known as Mayer– Endocrinology
Rokitansky–Küster–Hauser syndrome,
with a 46,XX karyotype. An adolescent
with primary amenorrhoea and little/no
breast development and short stature
Gynaecology
could have Turner syndrome, while one Nursing

with normal stature could have complete

gonadal dysgenesis.

Genetic testing Executive Young person General

Urology
and family practitioner
Many DSD are caused by variants in
genes involved in genital and/or gonadal
development or steroid hormone
production. Recent advances in molecular
genetics have enabled more accurate
molecular diagnoses in many individuals, Psychology
Genetics

which can then provide guidance

on prognosis and potential gonadal
malignancy risk for some (eg CAIS).12
Furthermore, a genetic diagnosis is often Ethics

helpful for individuals and families as they

deal with uncertainty, potential stigma
and blame. The yield from diagnostic
gene testing varies from high in cases Figure 1. Multidisciplinary team model2
with a clear steroidogenic pathway defect

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FOCUS | CLINICAL A GUIDE TO DIFFERENCES/DISORDERS OF SEX DEVELOPMENT/INTERSEX IN CHILDREN AND ADOLESCENTS

therapeutic indications, and >90% of the parents and patients may require repeated on the presence of gonadoblastoma
gonadectomies performed had abnormal explanation about the condition because on Y chromosome (GBY) material in
features on histology.15 information retention can be an issue, the karyotype, anatomical localisation
especially during the stressful period of a and degree of maturation of the
Psychological support new diagnosis. It is also important to bear gonad. The highest risk is in patients
Parents of newborns with DSD should in mind that the focus of explanation and with undifferentiated gonadal tissue,
be provided with psychological support, the issues of discussion change over the dysgenetic testes and intra-abdominal
ideally by someone with experience in time. Information disclosure can present testes in undervirilisation syndromes.21,22
DSD. The clinical psychologist is able further challenges for culturally and Gonadoblastoma and invasive GCTs occur
to provide support at times of medical/ linguistically diverse patients, as concepts at a much younger age when compared
surgical discussions and interventions, about sexuality and gender roles may vary with germ cell neoplasia in situ, which
gender identity assessments of the young between different cultures.18 A systematic occurs mainly after the exposure to
person, and transition to adult services. approach to medical record keeping also puberty hormones.21
The psychologist can aid in assessing the helps with future disclosure of the basis on Delaying surgery for functional gonads
parents’ and young person’s understanding which management decisions were made. allows time for exploration of gender
of information discussed and provide family identity, which may differ from assigned
support in a culturally sensitive manner. Surgical decisions sex; however, it is important to bear
The psychologist can also liaise with the Surgical decisions remain the most in mind the lack of robust surveillance
general practitioner and guide individuals challenging and controversial area methods to predict malignancy risk if
and families to appropriate peer support in DSD, especially if the surgery is dysgenetic gonads are left in situ. The
groups and resources. Unfortunately, considered irreversible. Functionality, use of gonadotropin-releasing hormone
access to psychological support is limited malignancy prevention and cosmetic agonist therapy can also be considered to
in Australia and around the world,16 appearance are all taken into account extend the decision-making timeframe for
and these roles may be undertaken to when considering surgical procedures.19 the patient temporarily where endogenous
a variable degree by doctors, nurses, There is currently no consensus in hormone production is incongruent with
genetics counsellors and other health team relation to the need for, or optimal timing gender identity.
members. Parent and peer support groups of, many surgical interventions. Over
can be helpful for many families (Table 1). time, recommendations for surgery Ethics and human rights issues
It is important that any information have evolved for reasons including: A major consideration in paediatric
disclosure is done in a sensitive manner, • a cessation of the standard practice to decision making is respecting parental
with language that is appropriate for the remove gonads solely to align with sex views/wishes and the impact on the
patient’s developmental age and parental of rearing individual as they become more aware of
capacity to understand.17 There may • advances in immunohistochemistry and their diagnosis and involved in decision
be uncertainty about outcomes, and genetics that have improved tumour risk making.23 Some patient groups advocate
stratification a complete moratorium on any genital/
• patient advocate requests for deferral of gonadal surgery until the individual is
Box 2. Common issues discussed non-therapeutic surgery, despite a lack able to give informed consent.24 This
at multidisciplinary team meetings of universal interpretation of ‘medically questions the parents’ ability to act in the
necessary surgery’. best interest of the child and whether
• Complex differences/disorders of sex
development cases with diagnostic
There is a paucity of longitudinal and the best interest of the child is identical
dilemmas systematic studies on the impact of surgery to that of the future adult25 while giving
• Sex of rearing versus deferral of surgery to guide optimal due consideration to the universal human
• Timing and/or indication for genital management. DSD MDT meeting reviews rights of non-discrimination and equality
tract surgeries consider these factors and may result in in any decision-making process. Each
• Timing and/or indication for hormone active deferral of surgical intervention. individual case should be discussed on its
treatment Concerns about the appropriateness of own merit, with due consideration given
• Risk of gonadoblastoma surgery were the subject of an Australian to available evidence on benefits versus
• Timing and/or indication for Senate Inquiry in 201320 and a recent risks for a particular procedure as well
gonadectomy Australian Human Rights Commission as psychosocial, cultural and personal
• Discordance between the parents’ view review on protecting the human rights circumstances.26 Six key ethical principles
and the members of the multidisciplinary
of people born with variations in sex in the management of DSD were proposed
team, conflicts of opinion within the team
characteristics (report awaited). by Gillam et al27 and later adopted by the
• Psychosocial wellbeing of the young
Predicting the risk of germ cell tumour consensus DSD guidelines2 to guide the
person and family
(GCT) development in DSD is an area of decision-making process for DSD MDTs.
• Referral to peer support groups
ongoing research and varies depending However, striking a balance between

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A GUIDE TO DIFFERENCES/DISORDERS OF SEX DEVELOPMENT/INTERSEX IN CHILDREN AND ADOLESCENTS FOCUS | CLINICAL

ethical principles can be challenging as handover from the paediatric MDT to provide a framework and opportunity
respecting one principle may result in specialists can be difficult to navigate. for interactive discussion between
compromise of another. The primary care physician has a vital representatives from several specialities
In Australia, the child is unable to role, together with the paediatric team, to and help create local expertise within
consent to a surgical procedure until they work through a transition checklist and the team. The primary care physician
reach the developmental age at which link individuals with DSD to appropriate plays a key part in multidisciplinary
they can understand the procedure and its services throughout the lifespan.29 care by providing holistic support to
consequences. Until then, parents or legal Building rapport and having sensitive the individual and their family. Because
guardians are responsible to give consent discussions relating to phenotypic, of the rarity of DSD, national and
provided they are fully informed and make anatomical and hormonal variations, international collaboration is necessary
the decision in child’s best interest.28 DSD gender identity and sexual health can to carry out meaningful research. It is
MDT meetings may enable the deferral of be complex and take time. essential that management practices are
surgical procedures that are not deemed continually evaluated and new advances
medically necessary until the age at which are embraced as more outcome data
the child can consent, and may provide a Conclusion become available from scientific research.
viable alternative to involvement of legal Individuals with DSD may present in the
agencies in the management of DSD. newborn period with atypical genitalia,
Authors
during adolescence with atypical
Komal A Vora MBBS, FRACP, Paediatric
Transition to adult care pubertal development, or in adulthood Endocrinologist, John Hunter Children’s Hospital,
People born with variations in sex with fertility issues. Management NSW; Cojoint Lecturer, School of Medicine and
Public Health, Faculty of Health and Medicine,
characteristics often require individualised of DSD requires highly specialised University of Newcastle, NSW
long-term hormone replacement, fertility multidisciplinary care encompassing Shubha Srinivasan BSc (Med), MBBS, PhD,
management, sexual health counselling medical, surgical, psychosocial, MRCP (UK), FRACP, Senior Staff Specialist,
Institute of Endocrinology and Diabetes, The
and ongoing psychological support. psychosexual and human rights/ethical Children’s Hospital at Westmead, NSW; Clinical
Adult MDTs for DSD are rare; therefore, aspects. Formal DSD MDT meetings Senior Lecturer, Sydney Medical School, Faculty

Table 1. List of support groups and online resources for parents and health professionals
General information about differences/ dsdfamilies – information and support for families, www.dsdfamilies.org
disorders of sex development (DSD) dsdteens – information for young people with DSD, www.dsdteens.org
DSD genetics, http://dsdgenetics.org/index.php

Patient advocacy/human rights Intersex Human Rights Australia (IHRA), https://ihra.org.au

Congenital adrenal hyperplasia (CAH) Congenital Adrenal Hyperplasia Support Group Australia (CAHSGA), www.cah.org.au
Australasia Paediatric Endocrine Group, https://apeg.org.au/patient-resources/hormones-
me-booklet-series
CARES Foundation (USA based), www.caresfoundation.org
CAH IS US (UK based), www.cahisus.co.uk/index.htm

Androgen insensitivity syndrome (AIS) and/or Intersex Peer Support Australia (IPSA), https://isupport.org.au
other intersex/DSD conditions AIS-DSD Support Group (USA based), http://aisdsd.org
Accord Alliance, www.accordalliance.org

Turner syndrome Turner Syndrome Association of Australia, www.turnersyndrome.org.au

Klinefelter syndrome and variants Australian X & Y Spectrum Support (AXYS), https://genetic.org
Klinefelter Syndrome Australia Inc., https://klinefelter.org.au
XYY Syndrome Association of Australia Inc., https://xyyaustralia.org
Triple X & Trisomy X Support Group Australia (closed Facebook support group),
www.facebook.com/groups/TrXAUS

Hypospadias, bladder/cloacal exstrophy Bladder Exstrophy, Epispadias, Cloacal Exstrophy, Hypospadias, Australian Community
(BEECHAC), www.beechac.com/about-us.html

Mayer–Rokitansky–Küster–Hauser (MRKH) Sisters for Love MRKH Foundation, www.sistersforlove.org/home.html

syndrome/Müllerian agenesis

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FOCUS | CLINICAL A GUIDE TO DIFFERENCES/DISORDERS OF SEX DEVELOPMENT/INTERSEX IN CHILDREN AND ADOLESCENTS

of Medicine and Health, University of Sydney, 15. Komal A, Vora CH, Philip Bergman, et al.
NSW. shubha.srinivasan@health.nsw.gov.au Multidisciplinary team (MDT) review of
Competing interests: None. management decisions in disorders/differences
of sex development (DSD): Experience of two
Funding: None. paediatric tertiary hospital networks. Australasian
Provenance and peer review: Commissioned, Paediatric Endocrine Group Annual Scientific
externally peer reviewed. Meeting – APEG 2016; 14–17 August 2016; Alice
Springs, NT: Alice Springs Convention Centre.
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