An SRY-negative XX male with Huriez syndrome

Clin Genet. 2000 Jan;57(1):61-6. doi: 10.1034/j.1399-0004.2000.570109.x.


This report studies a 42-year-old 46,XX patient affected by palmoplantar keratoderma. clinically classified as Huriez syndrome. The patient showed a male phenotype with apparently normal male features including testicular development. Cytogenetic and chromosomal painting analysis excluded the presence of translocation of the Y chromosome. PCR analysis of genomic DNA failed to detect the presence of the testis-determining gene, SRY. The presence of other Y-chromosome genes, known to be involved in testicular maturation and spermatogenesis, has also been analyzed. The data suggest that the sex reversal in this 46,XX male patient is due to a defect on a yet unidentified autosomal or X-linked sex-determining gene. The relationship between the sex reversion and the presence of sclerotylosis is discussed.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Painting
  • DNA-Binding Proteins / genetics*
  • Disorders of Sex Development*
  • Humans
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Models, Genetic
  • Nuclear Proteins*
  • Phenotype
  • Sex Chromosome Aberrations / genetics*
  • Sex-Determining Region Y Protein
  • Syndrome
  • Transcription Factors*
  • X Chromosome*


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