A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

Hum Genet. Sep-Oct 1992;90(1-2):121-5. doi: 10.1007/BF00210754.

Abstract

A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Blotting, Southern
  • Child
  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Disorders of Sex Development / genetics*
  • Humans
  • In Situ Hybridization
  • Infant
  • Molecular Sequence Data
  • Nuclear Proteins*
  • Oligonucleotide Probes / genetics
  • Polymerase Chain Reaction
  • Sex-Determining Region Y Protein
  • Transcription Factors*
  • Y Chromosome*

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • Oligonucleotide Probes
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Transcription Factors