46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

This condition is a rare disorder of sex development where there is a difficulty in converting testosterone into dihydrotestosterone (DHT). This problem in hormone processing affects the development of the genitalia before birth, leading to a range of appearances. Some individuals may have female-appearing genitalia with a blind vaginal pouch, while others may have male-appearing genitalia with features such as pseudovaginal posterior hypospadias and micropenis. The condition results in incomplete masculinization during fetal development. Because of this, people with the condition may have signs that do not fit typical male or female development. This variability in physical signs makes the condition unique and can require careful evaluation by healthcare providers.

People with this condition may have a range of physical signs. These can include ambiguous genitalia at birth, where the external appearance does not fit typical male or female standards. Specific signs mentioned include a blind vaginal pouch, pseudovaginal posterior hypospadias, and a micropenis.

The cause of this condition is due to a defect in a gene that is responsible for converting testosterone to dihydrotestosterone, an important hormone for male development before birth. The known gene involved is SRD5A2. This defect disrupts the normal hormonal signals needed for typical male genital development.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.