Salt-Wasting 21-Hydroxylase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and if untreated, hyponatremia, hyperkalemia, and shock.

**Synonyms:** - Salt-wasting 21-OHD - Salt-wasting 21-OHD