Krausz Csilla, Chianese Chiara
Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Pieraccini, Florence, Italy.
Curr Opin Endocrinol Diabetes Obes. 2014 Jun;21(3):244-50. doi: 10.1097/MED.0000000000000058.
Genetic disorders can be identified in about 15% of cases of male infertility. With the widespread application of assisted reproductive technology, infertile patients are now given the possibility of having their biological children; however, a genetic risk exists for assisted reproductive technology-born offspring, implying the necessity for future parents to be appropriately informed about potential consequences. In this review, we provide current recommendations on clinical genetic testing and genetic counselling.
New insights are presented concerning Klinefelter syndrome, X and Y chromosome-linked deletions, monogenic diseases and pharmacogenetics.
As for Klinefelter patients, novel preventive measures to preserve fertility have been proposed although they are not yet applicable in the routine setting. Y-chromosome deletions have both diagnostic and prognostic values and their testing is advised to be performed according to the new European Academy of Andrology/European Molecular Genetics Quality Network guidelines. Among monogenic diseases, major advances have been obtained in the identification of novel genes of hypogonadotrophic hypogonadism. Pharmacogenetic approaches of hormonal treatment in infertile men with normal values of follicle-stimulating hormone (FSH) are promising and based on FSHR and FSHB polymorphisms. X chromosome-linked deletions are relevant for impaired spermatogenesis. In about 40% of male infertility, the cause is unknown and novel genetic factors are expected to be discovered in the near future.
在约15%的男性不育病例中可识别出遗传疾病。随着辅助生殖技术的广泛应用，不育患者现在有了生育亲生子女的可能性；然而，辅助生殖技术所生孩子存在遗传风险，这意味着未来的父母有必要得到关于潜在后果的适当告知。在本综述中，我们提供了关于临床基因检测和遗传咨询的当前建议。
提出了关于克兰费尔特综合征、X和Y染色体连锁缺失、单基因疾病和药物遗传学的新见解。
对于克兰费尔特综合征患者，尽管尚未适用于常规情况，但已提出了新的生育力保存预防措施。Y染色体缺失具有诊断和预后价值，建议根据新的欧洲男科学会/欧洲分子遗传学质量网络指南进行检测。在单基因疾病中，在促性腺激素缺乏性性腺功能减退新基因的鉴定方面取得了重大进展。对于促卵泡激素（FSH）值正常的不育男性，基于FSHR和FSHB多态性的激素治疗药物遗传学方法很有前景。X染色体连锁缺失与精子发生受损有关。在约40%的男性不育病例中，病因不明，预计在不久的将来会发现新的遗传因素。
