Differences in clinical outcomes between men with mosaic Klinefelter syndrome and those with non‐mosaic Klinefelter syndrome

Abstract

Abstract Purpose This study compared the clinical outcomes of men with Klinfelter syndrome based on karyotype. Methods The authors analyzed the outcomes of microdissection testicular sperm extraction (micro‐TESE) performed on 57 patients with Klinfelter syndrome (KS) at our clinic. Results The average ages of the non‐mosaic and mosaic KS groups were 32.2 ± 4.8 and 45.9 ± 13.1 years, respectively. The sperm retrieval rates of the non‐mosaic and mosaic KS groups were 46.5% (20/43) and 50.0% (7/14), respectively. The fertilization rates after intracytoplasmic sperm injection did not significantly differ between the non‐mosaic and mosaic KS groups. The mosaic KS group had higher cleavage and blastocyst development rates than the non‐mosaic KS group (72.2% vs. 96.2% and 30.5% vs. 44.7%, respectively). The group using motile sperm had better outcomes than the group using immotile sperm. The embryo transfer outcomes of the non‐mosaic and mosaic KS groups did not significantly differ (clinical pregnancy rate: 28.0% vs. 20.7%, miscarriage rate: 14.3% vs. 33.3%, production rate per transfer: 22.0% vs. 13.8%, and production rate per case: 58.8% vs. 57.1%). Conclusions Compared with the non‐mosaic KS group, the mosaic KS group had significantly better intracytoplasmic sperm injection outcomes because of the higher utilization rate of motile sperm.

Keywords

• intracytoplasmic sperm injection
• Klinfelter syndrome
• microdissection sperm extraction
• mosaic karyotype