Effect of Testosterone Therapy on Penile Size in Two Children with 5-Alpha Reductase Type 2 Deficiency

Abstract

5-alpha-reductase type 2 deficiency (5-ARD) is an autosomal recessive condition resulting in the inability to convert testosterone to the more physiologically active dihydrotestosterone (DHT). Genetic males with 5-ARD are born with genital ambiguity that varies in severity from small phallus to completely female looking genitalia. The hormonal replacement therapy is not very effective in improving the penile length and there is no agreement on optimal therapy. In this study, we report the effect of intramuscular testosterone injection on penile size in 2 children with 5-ARD. Both patients who reached the age of 14 had a penile length of 4.5 and 5.5cm. We conclude that testosterone therapy has an advantage in improving penile size in children with 5-ARD especially in countries where DHT cream is not available or not approved