21-Hydroxylase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants.

**Synonyms:** - 21-OHD