Male infertility related to an aberrant karyotype, 47,XYY: four case reports

BACKGROUND: 47,XYY syndrome is a sex chromosomal abnormality observed in humans, with a prevalence of 0.1% of male births. Sex chromosome anomalies are more frequently associated with male infertility. CASE REPORT: We present here four cases of infertile men with azoospermia or severe oligozoospermia attending a genetic and fertility clinic. Chromosomal analysis of the peripheral blood lymphocytes demonstrated the constitutional karyotype of 47, XYY. Using fluorescence in situ hybridization (FISH) the presence of extra Y chromosome was confirmed, supporting the cytogenetic finding. CONCLUSION: The 47,XYY syndrome is relatively uncommon and can be missed clinically because of its variable clinical presentations. Accurate diagnosis of this constitutional karyotype provides a valuable aid in the counselling and early management of the patients who undertake fertility evaluation.