Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Definition
A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.
Also known as 17-alpha-hydroxylase/17,20-lyase deficiency, CAH due to 17-alpha-hydroxylase deficiency, combined 17-hydroxylase/17,20-lyase deficiency — per MONDO