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 journalArticle

Abstract

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
Volume57
Issue number1
DOIs
Publication statusPublished - 2000

Fingerprint

Y-Linked Genes
Palmoplantar Keratoderma
Paintings
Y Chromosome
Spermatogenesis
Cytogenetics
Genes
Testis
Phenotype
Polymerase Chain Reaction
DNA
Sclerotylosis

Keywords

  • Huriez syndrome
  • Sex reversal
  • SRY
  • Tylosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Vernole, P., Terrinoni, A., Didona, B., De Laurenzi, V., Rossi, P., Melino, G., & Grimaldi, P. (2000). An SRY-negative XX male with Huriez syndrome. Clinical Genetics, 57(1), 61-66. https://doi.org/10.1034/j.1399-0004.2000.570109.x

An SRY-negative XX male with Huriez syndrome. / Vernole, Patrizia; Terrinoni, Alessandro; Didona, Biagio; De Laurenzi, Vincenzo; Rossi, Pellegrino; Melino, Gerry; Grimaldi, Paola.

In: Clinical Genetics, Vol. 57, No. 1, 2000, p. 61-66.

Research output: Contribution to journalArticle

Vernole, P, Terrinoni, A, Didona, B, De Laurenzi, V, Rossi, P, Melino, G & Grimaldi, P 2000, 'An SRY-negative XX male with Huriez syndrome', Clinical Genetics, vol. 57, no. 1, pp. 61-66. https://doi.org/10.1034/j.1399-0004.2000.570109.x
Vernole, Patrizia ; Terrinoni, Alessandro ; Didona, Biagio ; De Laurenzi, Vincenzo ; Rossi, Pellegrino ; Melino, Gerry ; Grimaldi, Paola. / An SRY-negative XX male with Huriez syndrome. In: Clinical Genetics. 2000 ; Vol. 57, No. 1. pp. 61-66.
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