非梗阻性无精子症的遗传学基础及研究进展

非梗阻性无精子症(non-obstructive azoospermia,NOA)是导致男性不育的重要原因,影响着约0.6%的男性或10%的不育男性.NOA是一种由多因素引起的具有高度遗传异质性和表型异质性的复杂疾病,其中遗传学病因包括染色体异常、Y染色体微缺失、基因突变以及表观遗传修饰等.目前临床上针对NOA患者的遗传学检测,还仅限于结合附睾和睾丸穿刺活检的核型分析及Y染色体微缺失检测,而且一直缺乏理想的治疗方案.因此,深入解析NOA的具体分子机理,对阐明NOA的病因、提高男性不育的临床诊断和治疗具有重要意义.本综述将从NOA的遗传学基础、NOA的病理特征、临床诊断及治疗等方面进行系统的探讨.

The Progress of Genetics for Non-obstructive Azoospermia

Non-obstructive azoospermia (NOA) with meiotic arrest is largely unknown in the majority of male infertility, which affecting about 0.6% of men from the general population and 10% of infertile men. NOA is a complicated disease caused by multiple factors which featured high genetic and phenotype heterogeneity. This condition is related to known genetic disorders, including chromosomal abnormality, Y-chromosome microdeletions, single-gene mutation and epigenetic modification. Currently, the diagnosis and treatment of patients with NOA was limited to routine epididymal puncture biopsy, karyotype analysis and Y-chromosome microdeletion detection in the clinical. Effective diagnosis and treatment strategies were deficiency for NOA with complicated etiology. Therefore, a more comprehensive exploration of the molecular mechanism of NOA will be helpful to clarify the genetic causes of non-obstructive azoospermia, the clinical diagnosis and treatment of male infertility. In this paper, we comprehensively reviewed the several aspect of NOA, including the genetic basis of NOA, the pathological features of NOA, the clinical diagnosis and treatment of NOA.