0 CAH simplified

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CAH (Congenital Adrenal Hyperplasia) is an AR disease.

• MC cause of female pseudohermaphroditism - i.e karyotype xx but looks like male.
• MC enzyme deficiency is 21 alpha hydroxylase.

Features in 21 alpha def :

Acute adrenal crisis in child.

1. Hypoglycemia
2. Hyponatremia
3. Hyperkalemia
4. Shock

Increased testosterone - causes hypertrophy of clitoris.

Treatment :
Supplementation of

• Hydrocortisone (15-20 mg/m2)
• Fludrocortisone (0.15 mg/kg)

Diagnostic Test : MCQ point.

• 17 hydroxyprogesterone accumulates in CAH (when 21 alpha hydroxylase deficiency is the cause - No hypertension)

• 11 deoxycortisol accumulates (when 11 beta hydroxylase deficiency is the cause - has hypertension)

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