21-hydroxylase deficiency

external

• Synonyms

  • Congenital adrenal hyperplasia
  • CAH

• Causes

  • CYP21A2 gene mutation

• Effects

  • Adrenocortical insufficiency
  • Decreased aldosterone
  • Low glucocorticoid
  • Increased androgen secretion
  • Elevated 17-hydroxyprogesterone
  • Tall stature

• Parents

  • Autosomal recessive congenital metabolic disease

• Description

  • "Converts progrsterone to 11-deoxycorticosterone CYP21A2 "