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 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.
D000328:Adult; D001806:Blood Urea Nitrogen; D002648:Child; D013196:Dihydrotestosterone / Q000378:metabolism; D012734:Disorders of Sex Development / Q000097:blood* / Q000235:genetics; D004305:Dose-Response Relationship, Drug; D005347:Fibroblasts / Q000378:metabolism; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011485:Protein Binding; D011944:Receptors, Androgen / Q000187:drug effects; D011987:Receptors, Steroid / Q000187:drug effects; D013739:Testosterone / Q000008:administration & dosage / Q000097:blood
D011944:Receptors, Androgen; D011987:Receptors, Steroid; D013196:Dihydrotestosterone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone