de Sousa Filho E P, Christofolini D M, Barbosa C P, Glina S, Bianco B
Faculdade de Medicina do ABC, Department of Collective Health, Human Reproduction and Genetics Center, Santo André, São Paulo, Brazil.
Faculdade de Medicina do ABC, Department of Surgery, Discipline of Urology, Santo André, São Paulo, Brazil.
Andrologia. 2018 Apr;50(3). doi: 10.1111/and.12938. Epub 2017 Dec 18.
The pathogenic mechanisms by which varicocele disrupt spermatogenesis are not clearly understood. Over 30% of male infertility cases resulting from spermatogenic problems are associated with genetic abnormalities, and Y chromosome microdeletions are the second most frequent genetic cause. Here, we aimed to evaluate the frequency of Y chromosome microdeletion in infertile men with varicocele. A cross-sectional study comprising 51 infertile men with varicocele presenting spermatogenesis failures was performed. Y chromosome microdeletion research was made using polymerase chain reaction. Of the 51 men with infertility and varicocele, 35.3% (18/51) had nonobstructive azoospermia and 64.7% had severe oligozoospermia. Y chromosome microdeletion was found in two cases (3.9%): one patient had nonobstructive azoospermia and complete microdeletion of the AZFb and AZFc regions, and another patient had severe oligozoospermia and complete microdeletion of the AZFc region. Although in recent years, a genetic aetiology related to Y chromosome microdeletions has become a major cause of infertility in males with spermatogenesis failures, in this study, the varicocele was the clinical cause of seminal abnormalities that could lead to infertility, suggesting that both varicocele and Y chromosome microdeletion aetiologies can present, alone or combined, as factors of male infertility.
精索静脉曲张破坏精子发生的致病机制尚不清楚。超过30%由精子发生问题导致的男性不育病例与基因异常有关，Y染色体微缺失是第二常见的遗传原因。在此，我们旨在评估精索静脉曲张不育男性中Y染色体微缺失的频率。对51例患有精索静脉曲张且精子发生失败的不育男性进行了一项横断面研究。使用聚合酶链反应进行Y染色体微缺失研究。在51例不育且患有精索静脉曲张的男性中，35.3%（18/51）为非梗阻性无精子症，64.7%为严重少精子症。在两例患者（3.9%）中发现Y染色体微缺失：一例患者为非梗阻性无精子症，AZFb和AZFc区域完全微缺失，另一例患者为严重少精子症，AZFc区域完全微缺失。尽管近年来，与Y染色体微缺失相关的遗传病因已成为精子发生失败男性不育的主要原因，但在本研究中，精索静脉曲张是精液异常导致不育的临床原因，这表明精索静脉曲张和Y染色体微缺失病因均可单独或联合作为男性不育的因素出现。
