Male pseudohermaphroditism with partial androgen insensitivity

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 le...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1977-02, Vol.59 (2), p.224-231
Main Authors: Keenan, B S, Kirkland, J L, Kirkland, R T, Clayton, G W
Format: Article
Language:English
Subjects:
Adult
Blood Urea Nitrogen
Child
Dihydrotestosterone - metabolism
Disorders of Sex Development - blood
Disorders of Sex Development - genetics
Dose-Response Relationship, Drug
Fibroblasts - metabolism
Follicle Stimulating Hormone - blood
Humans
Luteinizing Hormone - blood
Male
Protein Binding
Receptors, Androgen - drug effects
Receptors, Steroid - drug effects
Testosterone - administration & dosage
Testosterone - blood
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Description
Summary: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.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.59.2.224