SRY-positive 46,XX male with cryptorchidism as the only presenting clinical feature

Urol Int. 2003;71(2):219-21. doi: 10.1159/000071852.

Abstract

The SRY gene, located on the short arm of the Y chromosome, is responsible for differentiation of the testis from the undifferentiated gonad. We report a 4-year-old patient with male phenotype and female karyotype (46,XX) with cryptorchidism as the only presenting clinical abnormality. Fluorescent in situ hybridization analysis, using Y- and X-specific (whole chromosome painting WCP Y WCP X) DNA and SRY probes, detected a small Y chromosome fragment, including the SRY gene, transferred to the short arm of the X chromosome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, X
  • Cryptorchidism / genetics*
  • Genes, sry*
  • Gonadal Dysgenesis, 46,XX / diagnosis
  • Gonadal Dysgenesis, 46,XX / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Phenotype