非梗阻性无精子症的遗传学病因及治疗研究进展

Research progress on the genetic etiology and treatment of nonobstructive azoospermia

非梗阻性无精子症(NOA)病因复杂,是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。目前尚缺乏统一有效的恢复生精功能的治疗策略。目前治疗方案主要有术前激素优化治疗、改变睾丸生精微环境、干细胞疗法等。本文对现存的NOA遗传学病因以及相关的治疗方法进行综述,以期对今后的临床治疗提供一定的指导意义。

Nonobstructive azoospermia(NOA)is a disease with complex etiology,genetic heterogeneity and phenotypic heterogeneity caused by multiple factors,including chromosome abnormalities,Y chromosome microdeletions,gene mutations and epigenetic modifications.At present,there is no unified and effective treatment strategy to restore spermatogenesis.The current treatment options include preoperative hormone optimization therapy,changing the testicular spermatogenesis microenvironment,and stem cell therapy.This article reviews the existing genetic etiology of NOA and related treatment methods,in order to provide reference for the clinical treatment.