Human Reproduction Update, Vol.9, No.4 pp.319-330, 2003
© European Society of Human Reproduction and Embryology 2003; all rights reserved
Embryology |
PGD in 47,XXY Klinefelter’s syndrome patients
1 Centre for Reproductive Medicine 2 Centre for Medical Genetics, University Hospital, Dutch-speaking Free University of Brussels (Vrije Universiteit Brussel), Brussels, Belgium 3 Centre for Reproductive Medicine, Academisch Ziekenhuis, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Brussels-Belgium.
To whom correspondence should be addressed at: C. Staessen, Centre for Reproductive Medicine, Academisch Ziekenhuis, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Brussels-Belgium. e-mail: catherine.staessen{at}az.vub.ac.be
Abstract
The use of ICSI has been a major breakthrough in the treatment of male infertility. Even azoospermic patients with focal spermatogenesis in the testis, may benefit from the ICSI technique in order to father a child. As ICSI use has become more common, centres have introduced infertility treatment for Klinefelter patients. To date, 34 healthy children have been born using ICSI without PGD, and the conception of one 47,XXY fetus has been reported. In view of the possible risk of an increased gonosome number in the spermatozoa of Klinefelter patients, a safer approach—offering these couples ICSI combined with PGD—has been used, and has resulted in the birth of three healthy children. Couples in which the male suffered from Klinefelter’s syndrome were first treated in 1995; these patients were offered ICSI + PGD using FISH technology, notably to enumerate the X and Y chromosomes. ICSI + PGD was performed in 32 cycles of 20 couples with spermatozoa originating from a fresh ejaculate (n = 1), testicular biopsy (n = 21) or frozen–thawed testicular biopsy (n = 10). Normal fertilization occurred in 56.0 ± 22.4% of the successfully injected oocytes. On day 3 of development, 119 embryos from 29 cycles were of sufficient quality to undergo biopsy and subsequent PGD; a positive result was obtained in 113 embryos. Embryos were available for transfer in 26 cycles, with a mean of 1.6 ± 0.6 embryos per transfer. Eight pregnancies were obtained, and five resulted in a delivery. A total of 113 embryos from couples with Klinefelter’s syndrome was compared with 578 embryos from control couples with X-linked disease where PGD was used to determine gender. A significant fall occurred in the rate of normal embryos for couples with Klinefelter’s syndrome (54.0%) compared with controls (77.2%). Moreover, a significantly increased risk of abnormalities was observed for sex chromosomes and autosomes; for each autosome separately, this reached significance level for chromosomes 18 and 21 only. Hence, a cautious approach is warranted in advising couples with non-mosaic Klinefelter’s syndrome. Moreover, the use of ICSI + PGD or prenatal diagnosis should be carefully considered.
Key words: FISH / ICSI / Klinefelter syndrome / PGD / testicular sperm
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