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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.
Non-obstructive azoospermia (NOA) is an important cause of male infertility affecting about 0.6% of men or 10% of infertile men.NOA is a multifactorial, highly inherited Heterogeneity and phenotypic heterogeneity of complex diseases, including genetic causes include chromosomal abnormalities, Y chromosome microdeletions, gene mutations and epigenetic modifications, etc. Currently, genetic testing for NOA patients, but also limited to the combination Epididymal and testicular biopsy karyotype analysis and detection of Y chromosome microdeletions, and has been the lack of ideal treatment program.Therefore, in-depth analysis of the specific molecular mechanism of NOA, to elucidate the cause of NOA, improve the clinical diagnosis and treatment of male infertility with The significance of this review will be systematically explored from the genetic basis of NOA, pathological features of NOA, clinical diagnosis and treatment.