Gunes, S.Asci, R.Okten, G.Atac, F.Onat, O. E.Ogur, G.Aydin, O.Ozcelik, T.Bagci, H.2016-02-082016-02-0820131939-6368http://hdl.handle.net/11693/21097The 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. © 2013 Informa Healthcare USA, Inc.English46,XX Testicular DSDMosaicismSRY positiveXCIArticle10.3109/19396368.2012.7316241939-6376