A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia

A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia

The 5α-reductase type 2 deficiency is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene. In this disease, defective conversion of testosterone to dihydrotestosterone leads to variable presentations of male ambiguous genitalia during...

Full description

Bibliographic Details
Main Authors: Meng-Che Tsai, Yen-Yin Chou, Shio-Jean Lin, Li-Ping Tsai
Format: Article
Language:English
Published: Wiley 2012-04-01
Series:Kaohsiung Journal of Medical Sciences
Subjects:
5α-reductase type 2 deficiency
Gender
Gene mutation
Infant
Sex development
Online Access:http://www.sciencedirect.com/science/article/pii/S1607551X11002348

Internet

http://www.sciencedirect.com/science/article/pii/S1607551X11002348

Similar Items