Document Detail

Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.
MedLine Citation:
PMID:  10543676     Owner:  NLM     Status:  MEDLINE    
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.
Y C Ong; H B Wong; G Adaikan; E L Yong
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Publication Detail:
Type:  Case Reports; Letter    
Journal Detail:
Title:  Lancet     Volume:  354     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  1999 Oct 
Date Detail:
Created Date:  1999-11-10     Completed Date:  1999-11-10     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1444-5     Citation Subset:  AIM; IM    
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MeSH Terms
Administration, Topical
Androgen-Insensitivity Syndrome / diagnosis,  drug therapy*,  genetics
Dihydrotestosterone / therapeutic use*
Drug Monitoring / methods*
Gonadal Steroid Hormones / therapeutic use*
Infant, Newborn
Receptors, Androgen / drug effects
Transcriptional Activation / drug effects
Reg. No./Substance:
0/Gonadal Steroid Hormones; 0/Receptors, Androgen; 521-18-6/Dihydrotestosterone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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