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)

MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

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