Dr. med. Dirk Manski

 You are here: Urology Textbook > Testes > Disorders of sex development > 5α-reductase deficiency

5α-Reductase Deficiency: Diagnosis and Treatment

Definition of 5α-Reductase Deficiency

5α-reductase deficiency hinders testosterone conversion into dihydrotestosterone and causes reduced virilization and genital ambiguity in males. The genetic defect affects type 2 of the 5α-reductase (Steers et al., 2001).

Signs and Symptoms of 5α-Reductase Deficiency

Diagnostic Workup

Treatment of 5α-Reductase Deficiency

With early diagnosis, a male gender assignment is reasonable, since with the beginning of puberty, a robust male gender identity will develop. Hypospadias should be corrected early. Substitution of dihydrotestosterone or higher doses of testosterone stimulates genital growth in puberty. Fertility is possible with the help of intrauterine insemination. In missed diagnosis and female gender assignment after birth, surgical corrections should be deferred until puberty (Cohen-Kettenis, 2005).

Index: 1–9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z


Cohen-Kettenis, P. T. Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency.
Arch Sex Behav, 2005, 34, 399-410

C. Radmayr, G. Bogaert, H. S. Dogan, and Tekg&uuml, “EAU Guidelines: Paediatric Urology,” 2022. [Online]. Available: https://uroweb.org/guidelines/paediatric-urology/.

Steers, W. D. 5alpha-reductase activity in the prostate.
Urology, 2001, 58, 17-24; discussion 24

  Deutsche Version: 5α-Reduktasemangel