title: Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report.
abstract: The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex development) is a rare form of sex reversal with complex mechanisms leading to a large spectrum of clinical manifestations ranging from ambiguous genitalia in the newborn to normal male phenotype. Therefore, diagnosis is established either pre- or early postnatal, or in adult life due to male infertility. In some cases, subtle clinical signs during childhood and puberty may be overlooked. A 28-year-old married man presented with azoospermia without erectile dysfunction. Between 9-14 years he was examined for the small testes and under-masculinized external genitalia but the diagnosis was not further clarified. At presentation, hormonal laboratory evaluation revealed hypergonadotropic hypogonadism. Chromosome analysis showed a 46, XX karyotype and translocation of SRY (testis-determining factor) from chromosome Y to chromosome X was identified by fluorescence in situ hybridization (FISH). Despite early subtle clinical signs of abnormal sexual development in this new 46, XX male syndrome, medical investigations were triggered by infertility.
authors.affiliation: Department of Endocrinology, University of Medicine and Pharmacy Cluj-Napoca, Romania. c_e_georgescu@yahoo.com
authors.forename: C E
authors.initials: CE
authors.lastname: Pepene
authors.forename: I
authors.initials: I
authors.lastname: Coman
authors.forename: D
authors.initials: D
authors.lastname: Mihu
authors.forename: M
authors.initials: M
authors.lastname: Militaru
authors.forename: I
authors.initials: I
authors.lastname: Duncea
mesh_terms: D000328:Adult; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D051876:Sex-Determining Region Y Protein