Wang Junwei, Wang Shuhui, Wang Meng, Yang Jinfei
School of Life Sciences and Medicine, Shandong University of Technology, Zibo 255000, China.
Weifang People's Hospital, Weifang, Shandong 261000, China.
Steroids. 2025 Apr;216:109583. doi: 10.1016/j.steroids.2025.109583. Epub 2025 Feb 26.
Non-obstructive azoospermia (NOA) is the most common cause of male infertility, accounting for approximately 60 % of azoospermia cases. In recent years, gene mutations have emerged as the primary factor under investigation for the etiology of NOA. Therefore, finding the cause and pathogenesis of NOA at the genetic level has become one of the current research hotspots. Genetic analysis of NOA patients revealed that gene mutations primarily concentrate in protein-coding regions and non-coding RNAs, predominantly occurring in cases of non-obstructive azoospermia. Hence, understanding the relationship between these gene mutations and NOA can not only provide new ideas for treatment, but also provide a theoretical basis for revealing the pathogenesis of NOA. This article comprehensively reviews recent advancements in identifying genes that are intricately associated with azoospermia. These results will provide meaningful guidance for the future development of NOA-targeted therapeutic drugs.
非梗阻性无精子症（NOA）是男性不育最常见的原因，约占无精子症病例的60%。近年来，基因突变已成为NOA病因研究的主要因素。因此，在基因水平上寻找NOA的病因和发病机制已成为当前的研究热点之一。对NOA患者的基因分析表明，基因突变主要集中在蛋白质编码区和非编码RNA，主要发生在非梗阻性无精子症病例中。因此，了解这些基因突变与NOA之间的关系，不仅可以为治疗提供新思路，还可以为揭示NOA的发病机制提供理论依据。本文全面综述了与无精子症密切相关基因的最新研究进展。这些结果将为未来针对NOA的治疗药物的开发提供有意义的指导。
