Word

17α-hydroxylase/17,20-lyase deficiency

A rare recessive congenital adrenal hyperplasia in which CYP17A1 mutations block cortisol and sex steroid synthesis, causing hypertension, hypokalemia and absent puberty.

CYP17A1 defect presenting in girls as amenorrhea

Also called: 17-alpha-hydroxylase deficiency, 17-α hydroxylase mutation, 17-OHD, CYP17A1 mutation