3-Beta-Hydroxysteroid Dehydrogenase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization.

**Synonyms:** - 3-beta HSD Deficiency