Two males with SRY-positive 46,XX testicular disorder of sex development

Syst Biol Reprod Med. 2013 Feb;59(1):42-7. doi: 10.3109/19396368.2012.731624. Epub 2012 Oct 30.

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.

Publication types

  • Case Reports

MeSH terms

  • 46, XX Testicular Disorders of Sex Development / genetics*
  • 46, XX Testicular Disorders of Sex Development / pathology
  • Adolescent
  • Adult
  • Chromosomes, Human, X / genetics
  • Genes, sry / genetics
  • Humans
  • Male
  • Mosaicism
  • Translocation, Genetic
  • X Chromosome Inactivation