5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family

Abstract

Key clinical message 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred until puberty because spontaneous virilization occurs and the patient can engage in the decision‐making process. Abstract 5‐Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family.

Keywords

• 5‐Alpha reductase deficiency
• dehydrotestosterone
• disorder of sex development