无精症及严重少精症患者Y染色体AZF微缺失区域与临床表型关系的研究

目的：研究男性原发性无精及严重少精症患者Y染色体AZF微缺失区域与临床表型的关系。方法：对100例特发性无精症及严重少精症患者的AZF区域微缺失进行筛查，对缺失分布区域与临床遗传学症状与体征、性腺内分泌、睾丸活检病理进行对比评估，并对其父进行微缺失筛查及染色体检查。结果：100例患者中，共发生AZF区域微缺失13例，检出率为13％。其中无精症组68例中，缺失检出率8．82％（6／68）；严重少精症组32例中，检出率21．87％（7／32），差异有统计学意义。缺失部位分布与内分泌各指标间未发现明显特征。AZF微缺失位点分布区域与临床遗传学症状、体征无特殊性密切关系。无生育问题的父辈遗传表型正常，且未发现Y染色体微缺失的发生。结论：Y染色体AZF区的基因位点的缺失导致男性原发无精或极少精，缺失范围越大，睾丸发育越差。

Study on the Relationship between the Region of Y Chromosome AZF Microdeletion and Clinical Phenotype in Patients with Idiopathic Azoospermia and Oligospermia

Objective:To explore the relationship between the region of Y chromosome AZF microdeletion and clinical phenotype in patients with idiopathic azoospermia and oligospermia. Methods: The regions of Y chromosome AZF microdeletion of 100 patients with idiopathic azoospermia and oligospermia were detected. The correlation between the region of deletion and clinical phenotype,endocrine function of gonad as well as the results of testicular biopsy were evaluated. The detections of Y chromosome AZF microdeletion and chromosome analyses were also conducted on their fathers or brothers. Results: Y chromosome AZF microdeletion was found in 13 patients,and the detection rate was 13%. Among these,the detection rates were 8.82% (6/68) and 21.87% (7/32) in patients with azoospermia and oligospermia respectively,showing the significant difference. The distribution of the regions was not related to endocrine factors. As to the fathers of the patients with normal reproductive function,their clinical phenotypes were normal and no Y chromosome AZF microdeletions were found. Conclusion: The genes on Y chromosome AZF region control spermatogenesis. The deletion of the gene locus in this region may result in idiopathic azoospermia and oligospermia at varying degrees. The larger the region of microdeletion is,the worse the testicle is developed.