5-alpha-reductase deficiency: a case report

Abstract

The condition of 5-alpha-reductase type 2 deficiency (5-ARD) is an inherited disorder resulting in the inability to convert testosterone to dihydrotestosterone (DHT). This disorder was previously termed as familial incomplete male pseudohermaphroditism type 2, pseudovaginal perineoscrotal hypospadias. Clinical manifestation of 5-ARD is limited to male genetic. The affected males are usually identified as female in childhood but undergo striking virilization at puberty. While overall incidence for various countries are not established, increased incidence is reported in the Dominican Republic, some highland tribes in New Guinea, Lebanon and Turkey. This was the first documented case in Cipto Mangunkusumo (CM) Hospital.

Keywords

• 5-alpha-reductase
• deficiency