title: Two males with SRY-positive 46,XX testicular disorder of sex development.
abstract: The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.
authors.affiliation: Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology, Samsun, Turkey. sgunes@omu.edu.tr
authors.forename: Sezgin
authors.initials: S
authors.lastname: Gunes
authors.forename: Ramazan
authors.initials: R
authors.lastname: Asci
authors.forename: Gülsen
authors.initials: G
authors.lastname: Okten
authors.forename: Fatih
authors.initials: F
authors.lastname: Atac
authors.forename: Onur E
authors.initials: OE
authors.lastname: Onat
authors.forename: Gonul
authors.initials: G
authors.lastname: Ogur
authors.forename: Oguz
authors.initials: O
authors.lastname: Aydin
authors.forename: Tayfun
authors.initials: T
authors.lastname: Ozcelik
authors.forename: Hasan
authors.initials: H
authors.lastname: Bagci
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics; D024282:Genes, sry / Q000235:genetics; D006801:Humans; D008297:Male; D009030:Mosaicism; D014178:Translocation, Genetic; D049951:X Chromosome Inactivation