Ron-El R, Strassburger D, Gelman-Kohan S, Friedler S, Raziel A, Appelman Z
IVF and Infertility Unit, Assaf Harofeh Medical Center, Tel Aviv University and Institute of Human Genetics, Kaplan Medical Center, Israel.
Hum Reprod. 2000 Aug;15(8):1804-6. doi: 10.1093/humrep/15.8.1804.
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.
迄今为止，已有报道称患有非嵌合型克兰费尔特综合征的男性生育了12名健康婴儿。这些妊娠所使用的精子，1例妊娠（双胞胎）取自冻融后的射精精液，其余10例婴儿的精子取自睾丸。所有婴儿的核型均正常。我们描述了一名患有非嵌合型克兰费尔特综合征的患者，对其进行了睾丸活检并收集到了活动精子。在注射的16个卵母细胞中，14个受精并分裂。移植了3个胚胎，结果导致三胎妊娠。绒毛取样的核型分析显示，三个胎儿的核型分别为46,XX、46,XY和46,XXY。受影响的46,XXY胎儿在妊娠第14周时减胎。妊娠最终在妊娠第36周时产下一名健康男婴和一名健康女婴，体重分别为3600克和2660克。该病例报告证明了曲细精管腔中存在超倍体精子，并强化了对此类患有非嵌合型克兰费尔特综合征男性所孕胚胎或胎儿进行基因诊断的必要性。
