Division of Urology, Department of Surgery, School of Medicine, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132, USA.
Urol Clin North Am. 2014 Feb;41(1):1-17. doi: 10.1016/j.ucl.2013.08.009. Epub 2013 Oct 23.
Genetics play an important role in the evaluation of the infertile male. The current limitations of classifying the genetic contribution to male infertility and the importance of phenotyping men are discussed, and the core concepts necessary to interpret most genetic studies are reviewed. The current genetic assays used clinically are discussed in detail. The use and interpretation of the cystic fibrosis transmembrane receptor assay are examined in the context of men with clinical bilateral absence of the vas deferens, a karyotype and Klinefelter syndrome, and Y chromosome microdeletions. The role of hormones and epigenetics in evaluating the genetic reproductive potential of men is discussed briefly. A summary of what the field might look like in 2034 is presented.
遗传学在评估男性不育症方面起着重要作用。本文讨论了目前对男性不育症遗传贡献进行分类的局限性和对男性表型分析的重要性，并回顾了解读大多数遗传研究所需的核心概念。详细讨论了目前临床上使用的遗传检测方法。还根据临床双侧输精管缺如、核型和克氏综合征以及 Y 染色体微缺失患者的情况，检查了囊性纤维化跨膜受体检测的使用和解释。简要讨论了激素和表观遗传学在评估男性遗传生殖潜能中的作用。本文还对 2034 年该领域的发展前景进行了概述。
