Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter's syndrome

Klinefelter's syndrome is a disorder of gonadal development and typically reveals a 47,XXY karyotype although mosaic forms also occur. Azoospermia is a common feature, but severe oligozoospermia and fertility have been reported. In this study, we have used intracytoplasmic sperm injection (ICSI) to achieve a live twin birth using spermatozoa from a 47,XXY man who has occasional spermatozoa present in the ejaculate. Spermatozoa were obtained from multiple ejaculates and frozen prior to commencing IVF treatment. Nine good quality embryos developed from the injection of 13 oocytes. All nine embryos were frozen. The initial transfer of two frozen-thawed embryos was unsuccessful. In the following cycle, the transfer of two additional frozen-thawed embryos resulted in the delivery of normal, healthy male and female twins. Five embryos remain frozen. It has generally been thought that the germ cells of 47,XXY men are unable to proceed through meiosis. Any spermatozoa produced have been assumed to come from a normal germ cell and therefore likely to have a normal karyotype. However, recent evidence suggests that meiosis of 47,XXY germ cells may be possible. Whether spermatozoa in these men arise from meiosis of 47,XXY germ cells, or from germ cells which have attained a normal karyotype by loss of an X chromosome, is unclear. Any risks in using spermatozoa from these patients have not yet been established. Patients need to be advised accordingly, and preimplantation or prenatal diagnosis should be considered. A cautious approach to the treatment of these patients is therefore warranted.