Birth of a healthy neonate following the intracytoplasmic injection of testicular spermatozoa from a patient with Klinefelter's syndrome

Klinefelter's syndrome is one of the known causes of azoospermia or cryptoa zoospermia, and it may present in non-mosaic (47,XXY) or mosaic (47,XXY/46, XY) form. The likelihood of finding spermatozoa in the ejaculate or testicu lar tissue of patients with mosaic Klinefelter's syndrome is low and with t he non-mosaic form, even lower. We describe a patient with non-mosaic Kline felter in whom initially non-motile spermatozoa mere derived from searching the ejaculate. Ten mature oocytes were injected, but none was fertilized. Subsequently, testicular biopsy was undertaken in order to collect spermato zoa for oocyte injection. Fifteen motile sperm cells were found and injecte d. Nine oocytes were fertilized and cleaved; three embryos were transferred into the uterine cavity. The woman conceived and following a normal pregna ncy delivered a healthy child. Genetic analysis of the neonate disclosed a normal 46,XY karyotype. Non-motile spermatozoa in the ejaculate did not pro ve their fertilization potential, but their presence did not exclude findin g motile, fertile spermatozoa in the testicular tissue in a non-mosaic Klin efelter patient. This report is further evidence that normal spermatozoa wi th fertilization potential are produced in the testes of patients with Klin efelter's syndrome.