Congenital Adrenal Hyperplasia

Adrenal Disorders – Scope of this session

Congenital adrenal hyperplasia (CAH)

illustrated by a case followed through 43 years

–steroid biochemistry

–pathology

–clinical features

–investigations

–management

Addison’s disease

  • Supply of cholesterol
  • Transport to inner mitochondrial membrane

–StAR (steroidogenic acute regulatory) protein

  • Hydroxylases

–Cytochrome P450 family

–NADPH-linked

–Mitochondrial & microsomal

–5 types involved (4 in adrenal cortex)

  • Dehydrogenases

–NADP+-linked

–Microsomal