Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is suspected in females who are virilised at birth, who become virilised postnatally, or who have precocious puberty or premature adrenarche.

Males with virilisation in childhood and infants of either sex with a salt-wasting crisis in the first 4 weeks of life are likely to be affected with CAH.

The diagnosis is confirmed by biochemical findings, such as an unequivocally elevated serum concentration of 17-hydroxyprogesterone.

Serum concentrations of delta-androstenedione and progesterone are increased in males and females with 21-hydroxylase-deficient CAH.

Serum concentrations of testosterone and adrenal androgen precursors are increased in affected females and prepubertal males.

Congenital adrenal hyperplasia (CAH) is a family of inherited enzyme deficiencies that impair normal corticosteroid synthesis by the adrenal cortex. The most common enzyme deficiency is 21-hydroxylase deficiency, which accounts for over 90% of cases. CAH due to 21-hydroxylase deficiency can be classified as either classical or non-classical.

Other rare enzyme deficiencies resulting in CAH include 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency, and 3-beta hydroxysteroid dehydrogenase deficiency.