Serebrovska Z A, Serebrovskaya T V, Pyle R L, Di Pietro M L
Institute of Bioethics, Catholic University of Sacred Heart, Roma, Italy.
Fiziol Zh (1994). 2006;52(3):110-8.
The fact that genetic aetiology is responsible for approximately one third of all kinds of male sterility has led to concerns regarding the application of artificial reproductive technologies in the cases of azoospermia and severe oligozoospermia. Congenital sterility could be caused by gene mutation, quantitative or structural abnormality of sexual chromosomes or autosomes. The possibility of inherited transmission of male sterility within the context of applying artificial reproductive technologies is analysed in the article. Klinefelter's syndrome, mutation of cystic fibrosis transmembrane conductance regulator (CFTR) gene, which causes cystic fibrosis, and mutation of azoospermia factor zone (AZF) of Y-chromosome are among the most frequent genetic causes of severe oligozoospermia and azoospermia. The probability of a mutation of the CFTR gene being transmitted to the next generation is 50%. The probability of inherit transmission of Klinefelter's syndrome of mosaic karyotype could reach 70%. The probability of transmission of AZF mutation to children of male sex, generated with ICSI, is 100%. The percent of men with AZF mutation among users of ICSI centers, ranges from 3.2% to 14%. It means that at least 3.2 % of all boys conceived with ICSI will be sterile because of mutation in the AZF zone of Y-chromosome. It should be noted that genetic analysis and counselling do not always occur before the beginning of artificial fertilization cycles. Parents-to-be do not always have an opportunity to learn about the genetic risks of their unborn child and make any subsequent and responsible decisions. Among the decisions is a choice of not resorting to ART, but to live with the infertility and explore other opportunities for parenthood. Responsibility for high risk of conceiving a child with genetic anomalies rests not only with the parents, but also with all of society, including those responsible for research, technology, and legislation, in the health care profession.
遗传病因导致了约三分之一的各类男性不育,这引发了人们对人工生殖技术在无精子症和严重少精子症病例中应用的担忧。先天性不育可能由基因突变、性染色体或常染色体的数量或结构异常引起。本文分析了在应用人工生殖技术的情况下男性不育遗传传递的可能性。克兰费尔特综合征、导致囊性纤维化的囊性纤维化跨膜传导调节因子(CFTR)基因突变以及Y染色体无精子症因子区(AZF)突变是严重少精子症和无精子症最常见的遗传原因。CFTR基因突变传递给下一代的概率为50%。嵌合核型克兰费尔特综合征遗传传递的概率可达70%。通过卵胞浆内单精子注射(ICSI)产生的男性子代中,AZF突变传递的概率为100%。在ICSI中心使用者中,携带AZF突变的男性比例在3.2%至14%之间。这意味着,至少3.2%通过ICSI受孕的男孩将因Y染色体AZF区突变而不育。应当指出的是,遗传分析和咨询并不总是在人工受精周期开始前进行。准父母并不总是有机会了解其未出生孩子的遗传风险并做出任何后续的负责任决定。这些决定包括选择不采用辅助生殖技术(ART),而是接受不育现状并探索其他为人父母的机会。生育患有遗传异常孩子的高风险责任不仅在于父母,也在于整个社会,包括医疗保健行业中负责研究、技术和立法的各方。