Crüger D, Toft B, Agerholm I, Fedder J, Hald F, Bruun-Petersen G
Department of Clinical Genetics, Vejle Hospital, DK-7100 Vejle, Denmark.
Hum Reprod. 2001 Sep;16(9):1909-11. doi: 10.1093/humrep/16.9.1909.
Klinefelter's syndrome is a major contributor to male infertility. Recent reports of births after ICSI with especially testicular spermatozoa from infertile men with this syndrome are promising. The birth of a healthy girl after ICSI treatment with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome is reported. The non-mosaic karyotype was confirmed by chromosome analysis of both peripheral blood leukocytes and fibroblasts from a skin biopsy. In conclusion, in a very few cases, men with apparently non-mosaic Klinefelter's syndrome have ejaculated spermatozoa that can result in a birth of a healthy child following ICSI.
克兰费尔特综合征是导致男性不育的主要原因。最近有报道称，通过胞浆内单精子注射（ICSI）技术，尤其是使用患有该综合征的不育男性的睾丸精子，成功实现了生育，这一成果很有前景。本文报道了一例使用非嵌合型克兰费尔特综合征男性的射出精子进行ICSI治疗后，诞下一名健康女婴的案例。通过对患者外周血白细胞和皮肤活检获取的成纤维细胞进行染色体分析，证实了其非嵌合核型。总之，在极少数情况下，患有明显非嵌合型克兰费尔特综合征的男性射出的精子，经ICSI治疗后可诞下健康婴儿。
