Adrenal Gland Hyperplasia III

**Semantic type:** Disease or Syndrome

**Definition:** Decreased activity of the enzyme 21-hydroxylase, associated with mutation(s) in the CYP21A2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia (CAH) and is the cause of approximately 95% of CAH.

**Synonyms:** - 21-Hydroxylase Deficieny - Adrenal Gland Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency - CAH1 - CYP21 Deficiency - Congenital Adrenal Hyperplasia 1