Congenital Adrenal Hyperplasia (CAH)

What is Congenital Adrenal Hyperplasia (CAH)

Congenital Adrenal Hyperplasia is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones

CAH is a mitochindrial disease.

CAH effects the adrenal glands located at the top of each kidney.

Synonyms of Congenital Adrenal Hyperplasia

  • Adrenogenital syndrome
  • CAH

Subtypes of Congenital Adrenal Hyperplasia

  1. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  2. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
  3. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
  4. Classic congenital lipoid adrenal hyperplasia due to STAR deficency
  5. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
  6. Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
  7. Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
  8. Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
  9. Congenital lipoid adrenal hyperplasia due to STAR deficency
    Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

Symptoms of CAH

Very Common Symptoms

  • Abnormality of metabolism/homeostasis 
  • Accelerated skeletal maturation 
  • Cryptorchidism 
  • Female pseudohermaphroditism 
  • Hypercortisolism 
  • Hypertension 
  • Hypospadias 

Common Symptoms

  • Failure to thrive in infancy 
  • Feeding difficulties in infancy 
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