An SRY-negative XX male with Huriez syndrome

This report studies a 42-year-old 46,XX patient affected by palmoplantar ke ratoderma, clinically classified as Huriez syndrome. The patient showed a m ale phenotype with apparently normal male features including testicular dev elopment. Cytogenetic and chromosomal painting analysis excluded the presen ce of translocation of the Y chromosome. PCR analysis of genomic DNA failed to detect the presence of the testis-determining gene, SRY. The presence o f other Y-chromosome genes, known to be involved in testicular maturation a nd spermatogenesis, has also been analyzed. The data suggest that the sex r eversal 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 s ex reversion and the presence of sclerotylosis is discussed.