5 Alpha Steroid Reductase 2 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism.

**Synonyms:** - 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency - 5-Alpha-Reductase Deficiency - Pseudovaginal Perineoscrotal Hypospadias