Huang W J, Yen P H
Department of Urology, National Yang-Ming University, School of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
Sex Dev. 2008;2(4-5):251-9. doi: 10.1159/000152041. Epub 2008 Nov 5.
Spermatogenesis is an ongoing developmental process in adult testes that requires the coordinated expression of many genes. The genetic causes of spermatogenic failure in men remain largely unknown, though abnormalities in the sex chromosomes constitute a significant portion of them. In this review, we focus on 3 disorders that involve the sex chromosomes and are often screened in infertility clinics. These are Klinefelter syndrome, Y chromosome microdeletion, and XX male syndrome. We describe their prevalence, the associated phenotypes, and the molecular mechanisms underlying the disorders and discuss the difficulties in identifying the causal genes contributing to the spermatogenic defects. Currently, there are no effective therapies for the spermatogenic failure in the patients, and conception through assisted reproductive technology bears the risk of passing genetic abnormalities to the next generation.
精子发生是成年睾丸中一个持续的发育过程，需要许多基因的协调表达。男性精子发生失败的遗传原因在很大程度上仍然未知，尽管性染色体异常占其中很大一部分。在本综述中，我们重点关注3种涉及性染色体且常在不孕不育诊所进行筛查的疾病。它们是克兰费尔特综合征、Y染色体微缺失和XX男性综合征。我们描述了它们的患病率、相关表型以及这些疾病背后的分子机制，并讨论了确定导致精子发生缺陷的致病基因的困难。目前，对于这些患者的精子发生失败尚无有效的治疗方法，通过辅助生殖技术受孕存在将遗传异常传递给下一代的风险。
