Journal Article

A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: Case report

Raphael Ron-El, Devorah Strassburger, Soli Gelman-Kohan, Shevach Friedler, Arie Raziel and Zvi Appelman

in Human Reproduction

Published on behalf of European Society of Human Reproduction and Embryology

Volume 15, issue 8, pages 1804-1806
Published in print August 2000 | ISSN: 0268-1161
Published online August 2000 | e-ISSN: 1460-2350 | DOI: http://dx.doi.org/10.1093/humrep/15.8.1804
A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: Case report

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The birth of 12 healthy infants to fathers with non-mosaic Klinefelter's syndrome has been reported so far. The spermatozoa for these pregnancies was obtained from frozen–thawed ejaculate in one pregnancy (twins) and from the testis in the remaining 10 infants. All of them had a normal karyotype. We describe a patient with non-mosaic Klinefelter's syndrome from whom a testicular biopsy was obtained and motile spermatozoa were collected. Of 16 oocytes that were injected, 14 fertilized and cleaved. Three embryos were transferred, resulting in a triplet pregnancy. Karyotype analysis from chorionic villous sampling revealed 46,XX, 46,XY and 46,XXY from the three fetuses. The affected 46,XXY fetus was reduced on the 14th gestational week. The pregnancy culminated with the birth of a healthy male and female, on the 36th gestational week, weighing 3600 and 2660 g respectively. This case report proves the presence of hyperploid spermatozoa in the seminiferous lumen, and strengthens the necessity of genetic diagnosis of the embryos or fetuses in such pregnancies to fathers with non-mosaic Klinefelter's syndrome.

Keywords: azoospermia; intracytoplasmic injection; Klinefelter's syndrome; testicular biopsy

Journal Article.  2285 words. 

Subjects: Reproductive Medicine

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