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目的探讨原发性无精子症患者的遗传学因素。方法对48例原发性无精子症患者进行常规外周血染色体及AZF检查。结果48例患者中正常男性核型(46,XY)37例,存在AZF缺失者5例,缺失率13.51%,AZFc缺失3例,AZFb缺失1例,AZFb+c缺失1例;异常核型11例,异常率29.92%,存在AZF缺失者4例,缺失率36.36%,AZFc缺失1例,AZFb+c缺失2例,AZFa+b+c缺失1例。20例正常男性对照AZF无缺失。结论原发性无精子症患者的生精障碍可能是不同机制和多重因素影响的结果。
Objective To investigate the genetic factors of patients with primary azoospermia. Methods 48 cases of primary azoospermia patients with conventional peripheral blood chromosome and AZF examination. Results There were 37 karyotypes (46, XY) in 48 males. There were 5 cases of AZF deletion, 13.51% of AZF deletion, 3 cases of AZFc deletion, 1 case of AZFb deletion and 1 case of AZFb + c deletion. Abnormal karyotype 11 Cases, the abnormal rate of 29.92%, there AZF deletion in 4 cases, the deletion rate of 36.36%, AZFc deletion in 1 case, AZFb + c deletion in 2 cases, AZFa + b + c deletion in 1 case. 20 cases of normal male AZF without loss. Conclusion Spermatogenic disorders in patients with primary azoospermia may be the result of different mechanisms and multiple factors.