title: Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.
abstract: Klinefelter syndrome represents the most commonly found human sex chromosomal abnormality. It is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Males with Klinefelter syndrome may have a 47,XXY or a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome, is very rare and so far only 10 cases have been described in literature [1,2,5,8,10,15,22,23,25,44]. We report here a case of a mosaic 47,XXY/46,XX infertile male in whom detailed cytogenetic, histological and molecular studies were performed. Cytogenetic analysis revealed 80% and 50% mosaicism for the 46,XX cell line in blood lymphocytes and in skin fibroblasts, respectively, and the presence of 47,XXY cells only, in cultured testicular tissue. Testicular histopathology revealed atrophy of the testes with no spermatogenesis and absence of germ cells. Molecular analysis showed paternal inheritance of the extra X chromosome.
authors.affiliation: Department of Genetics and Molecular Biology, "Mitera" General, Maternity and Pediatric Clinic, 6, Erythrou Stavrou and Kifissias Avenue, Maroussi, 15123 Athens, Greece. voulavel@mitera.gr
authors.forename: V
authors.initials: V
authors.lastname: Velissariou
authors.forename: S
authors.initials: S
authors.lastname: Christopoulou
authors.forename: C
authors.initials: C
authors.lastname: Karadimas
authors.forename: I
authors.initials: I
authors.lastname: Pihos
authors.forename: C
authors.initials: C
authors.lastname: Kanaka-Gantenbein
authors.forename: N
authors.initials: N
authors.lastname: Kapranos
authors.forename: G
authors.initials: G
authors.lastname: Kallipolitis
authors.forename: A
authors.initials: A
authors.lastname: Hatzaki
mesh_terms: D000328:Adult; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010641:Phenotype