Stouffs Katrien, Seneca Sara, Lissens Willy
Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090 Brussels, Belgium.
Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Laarbeeklaan 101, 1090 Brussels, Belgium.
Ann Endocrinol (Paris). 2014 May;75(2):109-11. doi: 10.1016/j.ando.2014.03.004. Epub 2014 Apr 24.
Male infertility, affecting around half of the couples with a problem to get pregnant, is a very heterogeneous condition. Part of patients are having a defect in spermatogenesis of which the underlying causes (including genetic ones) remain largely unknown. The only genetic tests routinely used in the diagnosis of male infertility are the analyses for the presence of Yq microdeletions and/or chromosomal abnormalities. Various other single gene or polygenic defects have been proposed to be involved in male fertility. Yet, their causative effect often remains to be proven. The recent evolution in the development of whole genome-based techniques may help in clarifying the role of genes and other genetic factors involved in spermatogenesis and spermatogenesis defects.
男性不育影响着约一半有生育问题的夫妇，是一种非常异质性的病症。部分患者存在精子发生缺陷，其潜在原因（包括遗传原因）在很大程度上仍不清楚。男性不育诊断中常规使用的唯一基因检测是Yq微缺失和/或染色体异常的分析。已提出各种其他单基因或多基因缺陷与男性生育力有关。然而，它们的致病作用往往仍有待证实。基于全基因组技术的最新发展可能有助于阐明参与精子发生和精子发生缺陷的基因及其他遗传因素的作用。
