Ejaculated spermatozoa in patients with non-mosaic Klinefelter's syndrome

Background: Non-mosaic Klinefelter patients are generally azoospermic and there is no therapy to improve the spermatogenesis. Some patients have a few spermatozoa in their ejaculates, which call be used for intracytoplasmic sperm injection (ICSI), but only a few cases resulting in a successful birth have been reported. Methods: Out of 52 non-mosaic 47,XXY Klinefelter patients, four cases having spermatozoa in their ejaculates were retrospectively studied. Results: Intracytoplasmic sperm injection was performed in three cases using their ejaculates and resulted in one chemical abortion and one death in utero (8 weeks). Using testicular sperm, one patient had a healthy baby with a normal karyotype. Conclusion: Some non-mosaic Klinefelter patients have ejaculated sperm that can result in a successful birth following ICSI. However, the birth rate is very low compared with the fertilization rate, suggesting increased risk of chromosomal abnormalities.