Physical and genital disturbances in patients with 5-α-reductase deficiency

Testosterone is converted to a more physiologically active dihydrotestosterone by 5-alfa-reductase type 2. Dihydrotestosterone is required for the normal masculinization of the genetic males’ external genitalia in utero. 5-alfa-reductase type 2 deficiency (5-ARD) results in feminization of the male external genitalia and is connected with delayed menarche and minimal body hair in women. The enzyme deficiency is common in some regions, for example in the Dominican Republic.
The paper is a review of the present knowledge of the pathogenesis, diagnosis and treatment of individuals with 5-ARD. The phenotypic variety of „boys” with 5-ARD is also discussed. The choice of proper treatment should be conditioned by the external genitalia appearance as well as the gender identity. Appropriate psychological support for the children and their families is considered to be important.
5-ARD was investigated relatively not a long time ago. It is believed that improvement of the diagnosis and therapy should be essential.