Birth of a male baby after intracytoplasmic injection of spermatozoa obtained from a nonmosaic Klinefelter patient

Klinefelter's syndrome is a common sex chromosome abnormality, resulting in azoospermia or severe oligozoospermia. There have been 8 cases of pregnancy and delivery after intracytoplasmic sperm injection (ICSI) in Klinefelter patients. We present a case where delivery was successful after ICSI with spermatozoa obtained from the ejaculate of a nonmosaic Klinefelter patient. A 29-year-old Japanese man was referred to our hospital with primary infertility. Investigations showed azoospermia and a 47,XXY karyotype in all 50 analyzed lymphocyte metaphases. After Percoll gradient centrifugation, a few motile sperms were observed in the ejaculates. His wife had a regular ovulatory cycle. The couple requested ICSI after being informed that the incidence of hyperhaploid sperm is higher in Klinefelter patients than in normal men and that preimplantation diagnosis for Klinefelter patients has not been generally accepted in Japan. Motile sperm obtained from the ejaculate were injected into 5 mature oocytes. Three oocytes fertilized and two cleaved embryos were transferred, resulting in a singleton pregnancy. Amniocentesis at 18 weeks of gestation showed a 46,XY karyotype and a male baby was delivered at 39 weeks. The present case suggests that ICSI with genetic counseling is an effective treatment for Klinefelter patients who have viable spermatozoa.