An SRY-negative XX male with Huriez syndrome

Patrizia Vernole, Alessandro Terrinoni, Biagio Didona, Vincenzo De Laurenzi, Pellegrino Rossi, Gerry Melino, Paola Grimaldi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)61-66
Number of pages6
JournalClinical Genetics
Issue number1
Publication statusPublished - 2000


  • Huriez syndrome
  • Sex reversal
  • SRY
  • Tylosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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