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 typicallyreveals a 47,XXY karyotype although mosaic forms also occur. Azoospermia isa common feature, but severe oligozoospermia and fertility have beenreported. In this study, we have used intracytoplasmic sperm injection(ICSI) to achieve a live twin birth using spermatozoa from a 47,XXY man whohas occasional spermatozoa present in the ejaculate. Spermatozoa wereobtained from multiple ejaculates and frozen prior to commencing IVFtreatment. Nine good quality embryos developed from the injection of 13oocytes. All nine embryos were frozen. The initial transfer of twofrozen-thawed embryos was unsuccessful. In the following cycle, thetransfer of two additional frozen-thawed embryos resulted in the deliveryof normal, healthy male and female twins. Five embryos remain frozen. Ithas generally been thought that the germ cells of 47,XXY men are unable toproceed through meiosis. Any spermatozoa produced have been assumed to comefrom a normal germ cell and therefore likely to have a normal karyotype.However, recent evidence suggests that meiosis of 47,XXY germ cells may bepossible. Whether spermatozoa in these men arise from meiosis of 47,XXYgerm cells, or from germ cells which have attained a normal karyotype byloss of an X chromosome, is unclear. Any risks in using spermatozoa fromthese patients have not yet been established. Patients need to be advisedaccordingly, and preimplantation or prenatal diagnosis should beconsidered. A cautious approach to the treatment of these patients istherefore warranted.