Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

Gunes S., Asci R., Okten G., Atac F., Onat O. E., Ogur G., ...More

SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, vol.59, no.1, pp.42-47, 2013 (SCI-Expanded) identifier identifier identifier


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.