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