Journal
MOLECULAR AND CELLULAR ENDOCRINOLOGY
Volume 198, Issue 1-2, Pages 51-59Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/S0303-7207(02)00368-4
Keywords
5 alpha-reductase; androgen; sexual development; gender identity
Categories
Funding
- NCRR NIH HHS [M01-RR-00047] Funding Source: Medline
- NICHD NIH HHS [HD-09421-15] Funding Source: Medline
Ask authors/readers for more resources
Dihydrotestosterone (DHT), a potent androgen, is converted from testosterone by 5alpha-reductase isozymes. There are two 5alpha-reductase isozymes, type 1 and type 2 in humans and animals. These two isozymes have differential biochemical and molecular features. Mutations in type 2 isozyme cause male pseudohermaphroditism, and many mutations have been reported from various ethnic groups. The affected 46XY individuals have high normal to elevated plasma testosterone levels with decreased DHT levels and elevated testosterone/DHT ratios. They have ambiguous external genitalia at birth so that they are believed to be girls and are often raised as such. However, Wolffian differentiation occurs normally and they have epididymides, vas deferens and seminal vescles. Virilization occurs at puberty frequently with a gender role change. The prostate in adulthood is small and rudimentary, and facial and body hair is absent or decreased. Balding has not been reported. Spermatogenesis is normal if the testes are descended. The clinical, biochemical and molecular genetic analyses of 5alpha-reductase-2 deficiency highlight the significance of DHT in male sexual differentiation and male pathophysiology. (C) 2002 Published by Elsevier Science Ireland Ltd.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available