title: Partial androgen insensitivity syndrome with thermolability in the androgen receptor.
abstract: We report case of partial androgen insensitivity syndrome in a 12-year-old boy referred to our clinic complaining of bilateral gynecomastia and left undescended testicle. Laparoscopy for undescended testicle and bilateral mastectomy were performed, and the left testicle was absent. When skin fibroblasts of the scrotum obtained during surgery were cultured to analyse the androgen receptors, a slight thermolability was observed. Genomic examination of the androgen receptor gene could not detect any mutations.
authors.affiliation: Department of Urology, Graduate School of Medical Science, Kyoto Prefectural Medical University of Medicine, Kyoto, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Hiraoka
authors.forename: Akihiro
authors.initials: A
authors.lastname: Kawauchi
authors.forename: Jintetsu
authors.initials: J
authors.lastname: Soh
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ohe
authors.forename: Hiroki
authors.initials: H
authors.lastname: Shima
authors.forename: Tsuneharu
authors.initials: T
authors.lastname: Miki
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000378:metabolism* / Q000473:pathology / Q000601:surgery; D015415:Biomarkers / Q000737:chemistry; D002478:Cells, Cultured; D002648:Child; D004247:DNA / Q000032:analysis; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007813:Laparotomy; D008297:Male; D008408:Mastectomy / Q000379:methods; D011944:Receptors, Androgen / Q000737:chemistry* / Q000235:genetics; D012611:Scrotum / Q000378:metabolism / Q000473:pathology
chemical_list: D015415:Biomarkers; D011944:Receptors, Androgen; D004247:DNA