Abstract
Androgen insensitivity was demonstrated in two male siblings with partial masculinization of the external genitalia. They had a previously undescribed defect characterized postpubertally by high plasma testosterone and luteinizing hormone concentrations with low serum follicle-stimulating hormone levels. Studies in skin fibroblasts showed normal androgen receptor affinity and capacity for 5alpha-dihydrotestosterone (DHT), normal nuclear retention of the receptor-DHT complex, and normal conversion of testosterone to DHT.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Blood Urea Nitrogen
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Child
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Dihydrotestosterone / metabolism
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Disorders of Sex Development / blood*
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Disorders of Sex Development / genetics
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Dose-Response Relationship, Drug
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Fibroblasts / metabolism
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Follicle Stimulating Hormone / blood
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Humans
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Luteinizing Hormone / blood
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Male
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Protein Binding
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Receptors, Androgen* / drug effects
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Receptors, Steroid* / drug effects
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Testosterone / administration & dosage
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Testosterone / blood
Substances
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Receptors, Androgen
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Receptors, Steroid
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Dihydrotestosterone
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Testosterone
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Luteinizing Hormone
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Follicle Stimulating Hormone