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.

Vernole, P., Terrinoni, A., Didona, B., De Laurenzi, V., Rossi, P., Melino, G., et al. (2000). An SRY-negative XX male with Huriez syndrome. CLINICAL GENETICS, 57(1), 61-66 [10.1034/j.1399-0004.2000.570109.x].

An SRY-negative XX male with Huriez syndrome

VERNOLE, PATRIZIA;Terrinoni, A;ROSSI, PELLEGRINO;MELINO, GENNARO;GRIMALDI, PAOLA
2000

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.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/13
English
Con Impact Factor ISI
Huriez syndrome; sex reversal; SRY; tylosis
Vernole, P., Terrinoni, A., Didona, B., De Laurenzi, V., Rossi, P., Melino, G., et al. (2000). An SRY-negative XX male with Huriez syndrome. CLINICAL GENETICS, 57(1), 61-66 [10.1034/j.1399-0004.2000.570109.x].
Vernole, P; Terrinoni, A; Didona, B; De Laurenzi, V; Rossi, P; Melino, G; Grimaldi, P
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/50022
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