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An SRY‐negative XX male with Huriez syndrome
Author(s) -
Vernole Patrizia,
Terrii Alessandro,
Didona Biagio,
De Laurenzi Vincenzo,
Rossi Pellegrino,
Melino Gerry,
Grimaldi Paola
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.570109.x
Subject(s) - testis determining factor , biology , chromosomal translocation , sex reversal , genetics , y chromosome , karyotype , gene , disorders of sex development , chromosome , phenotype , spermatogenesis , x chromosome , endocrinology
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.