An SRY-negative XX male with Huriez syndrome.
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
P
Department of Public Health and Cell Biology, University of Rome Tor Vergata, Italy.
Terrinoni
A
A
Didona
B
B
De Laurenzi
V
V
Rossi
P
P
Melino
G
G
Grimaldi
P
P
D000328:Adult; D020223:Chromosome Painting; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D009687:Nuclear Proteins; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D013577:Syndrome; D014157:Transcription Factors; D014960:X Chromosome
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors