A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary

Hum Genet. 1990 Oct;85(6):666-8. doi: 10.1007/BF00193595.


Two loci on the short arm of the human Y chromosome have recently been described as candidates for the testis determining factor (TDF); namely, ZFY, and a locus distal to ZFY, near the pseudoautosomal boundary. We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with testicular tissue in their gonads in the apparent absence of Y-specific DNA sequences. A reanalysis of these cases shows them all to lack ZFY, but one 46,XX true hermaphrodite carries sequences next to the Y pseudoautosomal boundary. This case provides further evidence for assigning the TDF locus very close to the pseudoautosomal region on Yp.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA-Binding Proteins / genetics*
  • Disorders of Sex Development / genetics*
  • Female
  • Gonadal Dysgenesis, Mixed / genetics
  • Humans
  • Kruppel-Like Transcription Factors
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Transcription Factors
  • X Chromosome


  • DNA-Binding Proteins
  • Kruppel-Like Transcription Factors
  • Transcription Factors
  • ZFY protein, human