Report of an XX male with hypospadias and pubertal gynecomastia, SRY gene negative in blood leukocytes but SRY gene positive in testicular cells

Horm Res. 1997;47(2):85-8. doi: 10.1159/000185438.

Abstract

Most XX male subjects present an anomalous translocation of the sex-determining region of the chromosome Y (SRY) gene from chromosome Y to chromosome X. Several explanations have been proposed for the differentiation of testicular tissue in the absence of SRY gene. A patient is presented in whom the SRY gene was absent in peripheral leukocytes but present in testicular tissue. This possibility should always be ruled out before diagnosing Y-negative XX maleness.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • DNA / blood
  • Gynecomastia / genetics*
  • Humans
  • Hypospadias / genetics*
  • Leukocytes / chemistry
  • Male
  • Mosaicism / genetics*
  • Polymerase Chain Reaction
  • Sex Chromosome Aberrations / diagnosis*
  • Sex Chromosome Aberrations / genetics
  • Testis / chemistry
  • Testis / cytology
  • Y Chromosome / genetics*

Substances

  • DNA