Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Definition
The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.
Also known as classic 21-OHD CAH, salt wasting form — per MONDO