Adrenal Disorders in Children

.
Common Adrenal Disorders in

Children
Dr Sarar Mohamed
FRCPCH (UK), MRCP (UK), CCST (Ire), CPT (Ire),
DCH (Ire), MD
Consultant Paediatric Endocrinologist & Metabolist
Assistant Professor of Pediatrics
King Saud University
Endocrine Glands
Agenda .
• Anatomy and physiology of adrenal

• Causes of adrenal insufficiency
• Addison Disease
• Adrenal crisis
• Congenital adrenal hyperplasia
• Cushing Syndrome
ADRENAL MEDULLA:
The principal cells of the medulla are the chromaffin
cells. They secretes adrenaline & noradrenaline.
.
ADRENAL GLAND
Adrenal Cortex, Function :
MINERALOCORTICOIDS – regulate sodium retention and
potassium loss and body fluid
GLUCOCORTICOIDS – act as anti-inflammatory agents;
affect metabolism.
ANDROGENS – regulates growth and development of
genetalia and puberty
Adrenal Medulla, Function :

ADRENALINE (EPINEPHRINE) – increases heart rate and
blood pressure.
NORADRENALINE (NOREPINEPHRINE) – constricts
arterioles.
Pattern of cortisole level during
the day
Aldosterone
• Mineralocorticoid
• Regulates concentration of Na+ and K+.

– Kidney conserves Na+.
– Kidney excretes K+.
• Responds to changes in composition of plasma.
• Regulated by renin-angiotensin system of kidney

Regulation of
adrenal gland
secretion ACTH
Cortisol
Cortisol
.
Adrenal Dysfunction
Decrease function Increase function

• Adrenal insufficiency • Cushing syndrome
• Low cortisol, aldestrone High Cortisol
• Eg Addison disease • Hyperaldosteronism
High aldestrone
• Pheochromocytoma
High catecholamine
.
Causes of Adrenal insufficiency
• Congenital adrenal hyperplasia

• Addison disease
• Infection (TB, sepsis)
• Adrenoleukodystrophy
.
Addison disease
• Autoimmune
• Isolated or associated with other autoimmune disease
• Presents with tiredness, weight loss, skin pigmentation
• Aldestrone & cortisol low, high ACTH, high renin
• Low sodium , high potasium
• ACTH stimulation test
• Adrenal antibodies
• Treatment : cortisol + aldestrone
Hyperpigmentation
A Color Atlas of Endocrinology p97

Primary Adrenal Insufficiency
 Hyperpigmentation
 Dehydration
 Hypotension
 Hyperkalemia
 Hyponatremia
 Hypoglycemia
Addisonian crisis
• Life threatening complication

• Severe vomiting and diarrhoea followed by
dehydration
• Low blood pressure and shock
• Hypoglycemia
• Loss of consciousness
• Treatment: IV fliuds+IV hydrocortisone
Congenital Adrenal Hyperplasia
• The first case was described in 1865

• Family of inherited disorders of adrenal
steroidogenesis
• Each disorder results from a deficiency of one
of several enzymes necessary for steroid
synthesis
• Autosomal Recessive (M=F)
• 21-hydroxylase  is the commonest form
Steroid biosynthetic enzymes
1) Cholesterol side chain cleavage=scc (20,22 desmolase)
2) 3-Hydoxysteroid dehydrogenase
3) 17  hydroxylase and 17,20 –lyase
4) 21-Hydroxylase
5) 11-Hydroxylase
6) Aldosterone synthetase (11,18 hydroxylase & 18 oxidase
.

CAH due to 21-Hydroxylase Deficiency
 90–95% of CAH cases are caused by 21- OHD

 Females affected with severe, classic 21- OHD are
exposed to excess androgens prenatally and are born
with virilized external genitalia
Presentations of 21 HCAH
• Ambiguous genitalia in girls

• Dehydration
• Shock
• Salt-loss presentations with electrolytes
imbalance
– Hyponatremia
– Hyperkalaemia
• Hypoglycemia
• Hyperpigementations
AMBIGUOUS GENETALIA
.
.
BOYS WITH CAH
Are unrecognized at birth because their genitalia are normal.
 Present early with salt wasting

crisis resulting in dehydration, hypotension, hyponatremia
and hyperkalemia
Or present later in childhood with early pubic hair, precocious

puberty and accelerated growth
Nonclassical CAH
Residual enzyme activity.

Non salt losing CAH
 present late in childhood with
precocious pubic hair and/or
clitoromegaly and accelerated growth.
Present in adolescence or adulthood
with varying virilizing symptoms
ranging from oligomenorrhea to
hirsutism and infertility.
.
Non classical
CAH
Diagnosis
 Serum electrolytes & glucose

 Low Na & high K
 Fasting hypoglycemia
 Elevated serum urea due to associated dehydration
 Elevated plasma Renin & ACTH levels
 Low Cortisol
 High 17 – OHP
 High androgens especially testosterone level
 Low Aldosterone
 Urinary steroid profile
 Chromosomes
 Pelvic US
Management
• Hydrocortisone
• Fludrocortisone 0.05 - 0.2 mg/day
• Triple hydrocortisone duiring stress.
• During adrenal crisis intravenous hydrocortisone and

IV fliud
• Surgey for female external genetalia

.
Newborn screening for CAH
• Neonatal screening by filter paper on 3rd day of life

• 17 Hydroxyprogestrone blood level (17 OHP)
Cushing’s syndrome
• Cushing’s Syndrome
– Results from increased adrenocortical secretion of
cortisol
– Causes include:
• ACTH-secreting tumor of the pituitary (Cushing’s
disease)
• excess secretion of cortisol by a neoplasm within
the adrenal cortex
• ectopic secretion of ACTH by a malignant growth
outside the adrenal gland
• excessive or prolonged administration of steroids
Cushing’s syndrome
• Cushing’s Syndrome
– Characterized by:
• truncal obesity
• moon face
• buffalo hump
• acne, hirsutism
• abdominal striae
• hypertension
• psychiatric disturbances
• osteoporosis
• Amenorrhea
• Diabetes
Frequency of signs and symptoms in Cushing’s
syndrome
Sign Occurrence Sign Occurrence

% %
or or
symptom symptom
Central obesity 94 Easy bruisability 60
Hypertension 82 Osteoporosis 60
Glucose intolerance 80 Personality 55
changes
Hirsutism 75 Acne 50
Amenorrhea or impotency 75 Edema 50
Purple striae 65 Headache 40
Plethoric faces 60 Poor wound healing 40
Pre treatment Post treatment
.
Treatment of Cushing’s syndrome

• Treatment of underline cause
• Surgery for neoplasia

Adrenal Disorders in Children

Uploaded by

Copyright:

Available Formats

Adrenal Disorders in Children

Uploaded by

Document Information

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Adrenal Disorders in Children

Uploaded by

Copyright:

Available Formats

.

Common Adrenal Disorders in

• Anatomy and physiology of adrenal

Adrenal Medulla, Function :

• Regulates concentration of Na+ and K+.

• Responds to changes in composition of plasma.

• Regulated by renin-angiotensin system of kidney

Decrease function Increase function

• Congenital adrenal hyperplasia

A Color Atlas of Endocrinology p97

• Life threatening complication

• The first case was described in 1865

Congenital Adrenal Hyperplasia

 90–95% of CAH cases are caused by 21- OHD

• Ambiguous genitalia in girls

 Present early with salt wasting

Or present later in childhood with early pubic hair, precocious

Residual enzyme activity.

 Serum electrolytes & glucose

• Fludrocortisone 0.05 - 0.2 mg/day

• Triple hydrocortisone duiring stress.

• During adrenal crisis intravenous hydrocortisone and

• Surgey for female external genetalia

• Neonatal screening by filter paper on 3rd day of life

Sign Occurrence Sign Occurrence

Treatment of Cushing’s syndrome

You might also like