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Lancet. 1999 Oct 23;354(9188):1444-5.

Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.

Abstract

We report a 46,XY infant with an M807T mutation in his androgen receptor that abrogated cellular responses to testosterone, but not to dihydrotestosterone (DHT), resulting in ambiguous genitalia. Treatment with a topical DHT gel restored male genital development allowing the infant to be reared in accordance with his chromosomal sex.

PMID:
10543676
[PubMed - indexed for MEDLINE]
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