PubMed · 2005 · 15 citations · 0 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsDisorders Of Sex DevelopmentGenetic DisordersGonadal DisordersSex Chromosome CytogeneticsSex DeterminationSex DifferentiationCytogenetic AberrationsDisorders Of Sexual DifferentiationDna In Situ HybridizationKlinefelter Syndrome CytogeneticsKlinefelter Syndrome GeneticsSex Chromosome AbnormalitiesSex Determination GenesSry Gene Abnormalities
BACKGROUND: Males with a 47,XXY karyotype have the clinical phenotype of Klinefelter syndrome. A few 47,XXY cases with a female phenotype have been reported. These individuals have positive SRY (testis-determining factor). The genetic explanation of this phenomenon is unclear. CASE: A 34-year-old woman presented with testicular feminization and a 47,XXY karyotype. Cytogenetic analysis and fluorescence in situ hybridization suggested that the Y chromosome had a normal structure; the polymerase chain reaction was positive for SRY. CONCLUSION: This is the third reported case of 47,XXY with afemale phenotype in spite of the presence of a Y chromosome and the normal SRY. This suggests that the phenotypic sex in these patients might be due to the involvement of other sex-determining genes.