Directed pharmacological therapy of ambiguous genitalia due to an androgenreceptor gene mutation

Authors
Ong, YC Wong, HB Adaikan, G Yong, EL
Citation
Yc. Ong et al., Directed pharmacological therapy of ambiguous genitalia due to an androgenreceptor gene mutation, LANCET, 354(9188), 1999, pp. 1444-1445
Citations number
5
Categorie Soggetti
General & Internal Medicine","Medical Research General Topics
Journal title
LANCET
ISSN journal
01406736 → ACNP
Volume
354
Issue
9188
Year of publication
1999
Pages
1444 - 1445
Database
ISI
SICI code
0140-6736(19991023)354:9188<1444:DPTOAG>2.0.ZU;2-F
Abstract
We report a 46,XY infant with an M807T mutation in his androgen receptor th at abrogated cellular responses to testosterone, but not to dihydrotestoste rone (DHT), resulting in ambiguous genitalia. Treatment with a topical DHT gel restored male genital development allowing the infant to be reared in a ccordance with his chromosomal sex.