Human Reproduction, Vol. 15, No. 8, 1804-1806,
August 2000
© 2000 European Society of Human Reproduction and Embryology
A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: Case report
1 IVF and Infertility Unit, Assaf Harofeh Medical Center, Tel Aviv University and 2 Institute of Human Genetics, Kaplan Medical Center, Israel
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.
Key words: azoospermia/intracytoplasmic injection/Klinefelter's syndrome/testicular biopsy
3 To whom correspondence should be addressed at: IVF and Infertility Unit, Assaf Harofeh Medical Center, Tel Aviv University, Israel. E-mail: rronel{at}asaf.health.gov.il
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  R.H. Martin Cytogenetic determinants of male fertility Hum. Reprod. Update, June 4, 2008; (2008) dmn017v1. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Aksglaede, A. M. Wikstrom, E. R.-D. Meyts, L. Dunkel, N. E. Skakkebaek, and A. Juul Natural history of seminiferous tubule degeneration in Klinefelter syndrome Hum. Reprod. Update, January 1, 2006; 12(1): 39 - 48. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 V. Vernaeve, C. Staessen, G. Verheyen, A. Van Steirteghem, P. Devroey, and H. Tournaye Can biological or clinical parameters predict testicular sperm recovery in 47,XXY Klinefelter's syndrome patients? Hum. Reprod., May 1, 2004; 19(5): 1135 - 1139. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Tachdjian, N. Frydman, N. Morichon-Delvallez, A. L. Du, R. Fanchin, M. Vekemans, and R. Frydman Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review Hum. Reprod., February 1, 2003; 18(2): 271 - 275. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. C. St. John Ooplasm donation in humans: The need to investigate the transmission of mitochondrial DNA following cytoplasmic transfer Hum. Reprod., August 1, 2002; 17(8): 1954 - 1958. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Yamamoto, N. Sofikitis, Y. Mio, D. Loutradis, A. Kaponis, and I. Miyagawa Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter's syndrome Hum. Reprod., April 1, 2002; 17(4): 886 - 896. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Bergere, R. Wainer, V. Nataf, M. Bailly, M. Gombault, Y. Ville, and J. Selva Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results Hum. Reprod., January 1, 2002; 17(1): 32 - 37. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Visootsak, M. Aylstock, and J. M. Graham Jr Kilnefelter Syndrome and Its Variants: An Update and Review for the Primary Pediatrician Clinical Pediatrics, December 1, 2001; 40(12): 639 - 651. [Abstract] [PDF]
|
|
|
|
|
|
S. Friedler, A. Raziel, D. Strassburger, M. Schachter, O. Bern, and R. Ron-El Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with non-mosaic Klinefelter's syndrome Hum. Reprod., December 1, 2001; 16(12): 2616 - 2620. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Kyono, N. Fukunaga, K. Haigo, S. Chiba, and Y. Araki Pregnancy achieved following ICSI from a man with Klinefelter's syndrome and spinal cord injury: Case report Hum. Reprod., November 1, 2001; 16(11): 2347 - 2349. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Cruger, B. Toft, I. Agerholm, J. Fedder, F. Hald, and G. Bruun-Petersen Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome: Case report Hum. Reprod., September 1, 2001; 16(9): 1909 - 1911. [Abstract] [Full Text] [PDF]
|
|