Objective: To report the birth of a healthy female infant from a father with nonmosaic Klinefelter syndrome (KS) and document the experience of men with KS undergoing assisted conception.
Design: Retrospective.
Setting: Private IVF center.
Patient(s): Twelve couples with male factor infertility due to Klinefelter syndrome undergoing assisted reproduction treatment.
Intervention(s): Controlled ovarian hyperstimulation, testicular sperm extraction, intracytoplasmic sperm injection (ICSI), round spermatid injection (ROSI), and preimplantation genetic diagnosis.
Main outcome measure(s): Testicular sperm retrieval rate, fertilization rate, and pregnancy outcome.
Result(s): There was a sufficient amount of motile sperm for injection into mature oocytes in 6 of the 11 testicular biopsies (54.5%). Fertilization rates for ICSI and ROSI cases were 54.2% and 41.6%, respectively. The pregnancy rate per ET was 27.2%. None of the ROSI cases resulted in pregnancy. Two patients had spontaneous abortions at 8 and 18 weeks of gestation, respectively. Only one patient delivered a healthy female baby after 36 weeks of an uneventful pregnancy.
Conclusion(s): Men with KS can benefit from assisted reproductive technologies, and the testicular sperm retrieval rate among them is promising. Although sex chromosome aberrations among the embryos from men with KS are not common, couples can be offered preimplantation genetic diagnosis before ET.