The adrenals are paired endocrine glands
located on the kidneys. Its made up of :
CAH is also referred to Adrenogenital syndrome
It represents a group of AR inherited metabolic
errors, each characterised by a deficiency or
total lack of a particular enzyme involved in the
biosynthesis of cortical steroids particularly
cortisol leading to a sustained elevation in ACTH
1:5 000 – 10 000 infants.
There are 5 enzymes in th adrenal gland that
converts cholesterol to cortisol:
• 20-22= 20-22 desmolase
• 3= 3 beta OH steroid DH
• 17= 17alpha hydroxylase
• 21= 21 hydoxylase (90% of cases)
• 11= 11 beta hydoxylase (5% of cases)
• 18= 18 hydroxylase and DH
Such that there is
Lack of cortisol
Lack of aldosterone
Its based on total lack or deficiency of the
Clinical features also based on the type.
1. Salt losing /Classic CAH
Accounts for 80% and it’s the most severe.
• There is a total lack of 21 hydoxylase causing
significant salt loss.
• Presentation is at 1-3 weeks with (adrenal
crisis) vomiting, dehydration, shock,
hypotension, electrolyte derangement
• Usually misdiagnosed as gastroenteritis.
Ambiguous genitalia at birth for females.
2. Non salt losing /simple virilising CAH
• Its due to a deficiency & not total lack, so
there is no significant salt loss but excess
• In females: accelerated growth &skeletal
devpt. with clitoromegaly, labial fusion,
pubic hair, hirsutism.
• In males: rapid growth in height, enlarged
penis &early pubic hair appearance.
3. Late onset / Non classic CAH
Symptoms usually appear after puberty.
• In females: unwanted hair growth &
irregular periods, infertility, clitoromegaly
later in childhood.
• In males: it goes unnoticed.+/- low sperm
Ambiguous genitalia in females
• Maternal androgen ingestion
• Maternal androgen secreting tumour
• Fetal androgen seceting tumour
-Deny’s drash syndrome
-mixed gonadal dysgenesis
-bilateral adrenal haemorrhage
• Serum E &U
• Serum steroid levels
• Urinary steroid levels
• Others: Serum ACTH, Aldosterone & Renin
In salt losing crisis
-IV normal saline 20ml/kg in 1hr
-Plasma for those in shock
-Dextrose for hypglycaemia
Aldosterone -suspension fludrocortisone
Cortisol –hydrocortisone 25mg 6hrly IV,
-importance of replacement
-additional doses of glucocorticoids.
Is good is there is early medical
However, there are problems of:
Prenatal diagnosis by amnionocentesis, CV