Ghieh Farah, Mitchell Valérie, Mandon-Pepin Béatrice, Vialard François
1EA7404-GIG, UFR des Sciences de la Santé Simone Veil, UVSQ, Montigny le Bretonneux, France.
2CHU Lille, Reproductive Biology Institute-Spermiologie-CECOS, Jeanne de Flandre Hospital, Lille, France.
Basic Clin Androl. 2019 Apr 23;29:4. doi: 10.1186/s12610-019-0086-6. eCollection 2019.
As with many other diseases, genetic testing in human azoospermia was initially restricted to karyotype analyses (leading to diagnostic chromosome rearrangement tests for Klinefelter and other syndromes). With the advent of molecular biology in the 1980s, genetic screening was broadened to analyses of Y chromosome microdeletions and the gene coding for the cystic fibrosis transmembrane conductance regulator (). Decades later, the emergence of whole-genome techniques has led to the identification of other genetic defects associated with human azoospermia. Although and defects are frequently described in men with azoospermia, most of the causal gene defects found to date are private (i.e. identified in a small number of consanguineous families). Here, we provide an up-to-date overview of all the types of genetic defects known to be linked to human azoospermia and try to give clinical practice guidelines according to azoospermia phenotype. Along with homozygous mutations, polymorphisms and epigenetic defects are also briefly discussed. However, as these variations predispose to azoospermia, a specific review will be needed to compile data on all the particular genetic variations reported in the literature.
与许多其他疾病一样，人类无精子症的基因检测最初仅限于核型分析（从而产生了针对克兰费尔特综合征和其他综合征的诊断性染色体重排检测）。随着20世纪80年代分子生物学的出现，基因筛查范围扩大到Y染色体微缺失分析以及囊性纤维化跨膜传导调节因子的编码基因分析。几十年后，全基因组技术的出现导致了与人类无精子症相关的其他基因缺陷的发现。尽管无精子症男性中经常描述[此处原文有缺失内容]和[此处原文有缺失内容]缺陷，但迄今为止发现的大多数致病基因缺陷都是个体特有的（即在少数近亲家庭中发现）。在此，我们提供了与人类无精子症相关的所有已知基因缺陷类型的最新概述，并试图根据无精子症表型给出临床实践指南。同时也简要讨论了纯合突变、多态性和表观遗传缺陷。然而，由于这些变异易导致无精子症，因此需要进行专门综述以汇总文献中报道的所有特定基因变异的数据。
