H. Bourne et al., DELIVERY OF NORMAL TWINS FOLLOWING THE INTRACYTOPLASMIC INJECTION OF SPERMATOZOA FROM A PATIENT WITH 47,XXY KLINEFELTERS-SYNDROME, Human reproduction, 12(11), 1997, pp. 2447-2450
Klinefelter's syndrome is a disorder of gonadal development and typica
lly reveals a 47,XXY karyotype although mosaic forms also occur. Azoos
permia is a common feature, but severe oligozoospermia and fertility h
ave 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. S
permatozoa 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 tr
ansfer 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 4
7,XXY men are unable to proceed through meiosis. Any spermatozoa produ
ced have been assumed to come from a normal germ cell and therefore li
kely to have a normal karyotype. However, recent evidence suggests tha
t 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 pre
implantation or prenatal diagnosis should be considered. A cautious ap
proach to the treatment of these patients is therefore warranted.