Adult onset of declining spermatogenesis in a man with nonmosaic Klinefelter's syndrome

Objective: To examine an unusual case of Klinefelter's syndrome. Design: Case report. Setting: An infertility clinic at a private hospital. Patient(s): A patient with nonmosaic Klinefelter's syndrome who had had a child with his ex-wife without artificial reproductive technologies. Intervention(s): Karyotyping with peripheral blood lymphocytes, microdissection testicular sperm extraction, and intracytoplasmic sperm injection (ICSI). Main Outcome Measure(s): Sperm count and testicular histopathology. Result(s): Semen analysis revealed severe oligoasthenozoospermia. Intracytoplasmic sperm injection using ejaculated spermatozoa was performed, and successful pregnancy and delivery were achieved. Two years later, multiple semen analyses revealed azoospermia. Microdissection testicular sperm extraction was performed, and motile sperm were successfully retrieved. Unfortunately, the first cycle of ICSI using testicular sperm failed. Testicular histopathology was compatible with decreased spermatogenesis. Conclusion(s): This is a case of a man with nonmosaic Klinefelter's syndrome who exhibited progressive decline of spermatogenesis. This case suggests the merit of early sperm retrieval and cryopreservation for future management of infertility in Klinefelter's syndrome. (Fertil Steril (R) 2006;85:1511.e1-2. (c) 2006 by American Society for Reproductive Medicine.)