label: 5 Alpha Steroid Reductase 2 Deficiency
label_lc: 5 alpha steroid reductase 2 deficiency
description: 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.