title: Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype.
abstract: We hereby present a rare case of a 46,XY/45,XO/47,XXY mosaic male patient with a predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO gonadal dysgenesis and Klinefelter syndromes, suffered from infertility and multiple urogenital abnormalities, as our investigation revealed.
authors.affiliation: Department of Urology, Ioannina University School of Medicine, Ioannina, Greece.
authors.forename: I F
authors.initials: IF
authors.lastname: Filiadis
authors.forename: M B
authors.initials: MB
authors.lastname: Syrrou
authors.forename: M C
authors.initials: MC
authors.lastname: Bai
authors.forename: I A
authors.initials: IA
authors.lastname: Georgiou
authors.forename: G N
authors.initials: GN
authors.lastname: Pagoulatos
authors.forename: X
authors.initials: X
authors.lastname: Giannakopoulos
mesh_terms: D000015:Abnormalities, Multiple; D002460:Cell Line; D005500:Follow-Up Studies; D006061:Gonadal Dysgenesis, 46,XY / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics*; D009634:Noonan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes; D014545:Urinary Calculi / Q000175:diagnosis / Q000628:therapy; D014564:Urogenital Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D014567:Urography