Aberdeen Fertility Centre, Aberdeen Maternity Hospital, Aberdeen AB25 2ZN, UK.
Hum Reprod. 2010 Mar;25(3):588-97. doi: 10.1093/humrep/dep431. Epub 2010 Jan 19.
Klinefelter syndrome is a common genetic condition. Affected non-mosaic men are azoospermic and have been labelled as infertile. Despite reports that these men can have children using assisted reproduction techniques, it is not common practice in the UK to offer sperm retrieval to these men.
Medline and EMBASE (1980-2009) were searched independently by two authors and all studies involving surgical sperm retrieval in non-mosaic Klinefelter syndrome were included. The primary outcome was success of surgical sperm retrieval and the secondary outcome was live birth rate.
The overall success rate for sperm retrieval was 44%, with a higher rate of success using micro-dissection testicular sperm aspiration (micro-TESE) (55%). This, along with ICSI, has led to the birth of 101 children. However, there are no known predictors for successful sperm retrieval. Although there are concerns about genetic risk to the offspring of non-mosaic Klinefelter patients, this risk has not been found to be greater than that of patients with non-obstructive azoospermia with normal karyotype.
It is possible for a man with non-mosaic Klinefelter to father a child. However, before these techniques are offered, some ethical issues need to be explored.
克氏综合征是一种常见的遗传病症。未发生嵌合现象的患者通常表现为无精子症，被认为患有不育症。尽管有报道称这些患者可以通过辅助生殖技术生育后代，但在英国，这些患者通常不采用精子获取术。
两位作者独立检索了 Medline 和 EMBASE（1980-2009 年），并纳入了所有涉及非嵌合型克氏综合征患者行外科取精的研究。主要转归指标为外科取精的成功率，次要转归指标为活产率。
总体取精成功率为 44%，采用微切割睾丸精子抽吸术（micro-TESE）的成功率更高（55%）。这与 ICSI 一起，已使 101 名儿童诞生。然而，目前尚无已知的取精成功预测指标。尽管有报道称非嵌合型克氏综合征患者的后代存在遗传风险，但尚未发现其风险大于核型正常的非梗阻性无精子症患者。
未发生嵌合现象的克氏综合征患者有可能生育后代。然而，在提供这些技术之前，需要探讨一些伦理问题。
