摘要目的 探讨河南焦作地区原发性非梗阻性无精子症或严重少精子症患者的遗传学病因,为其临床诊断和治疗提供依据.方法 对 2017 年 1 月至 2018 年 12 月就诊于焦作市妇幼保健院的171 例无精子症与172 严重少精子症患者同时进行染色体核型分析及 Y染色体无精子因子基因( azoospermia factor , AZF )进行微缺失检测.结果 3 4 3 例无精子症或严重少精子症患者的核型分析共检出 39 例异常核型,占比 11. 37% (39/343),其中克氏综合征27 例;共检出 Y 染色体微缺失患者 44 例,占比 12. 83% (44/343),其中 AZFc 缺失 30例. 5 例患者同时检测到染色体核型异常与 Y 染色体微缺失.结论 原发性非梗阻性无精子症症或严重少精子症患者中染色体核型异常及 Y 染色体微缺失发生率较高,建议对该类患者常规进行染色体核型分析及 Y 染色体微缺失联合检测,以有效地指导男性不育患者的诊断和治疗.

abstractsObjective To explore the genetic causeof non-obstructive azoospermia or severe oli-gozoospermia in Jiaozuo area of Henan Province , and provide basisof clinical diagnosis and treatment . Methods Routine karyotype analysisand the screening for Y chromosomal microdeletions in azoospermia factor ( AZF ) region were performed for 3 4 3 cases with azoospermia or severe oligozoospermia who were admitted to our hospital from January 2 0 1 7 to December 2 0 1 8 . Results A total of 3 9 chromosomal ab-normalities ( 1 1 . 3 7 % ) were detected in 3 4 3 patients , which including 2 7 cases ( 7 . 8 7 % ) of Klinefelter syndrome . A total of 4 4 cases ( 1 2 . 8 3 % ) of Y chromosome microdeletions were detected , which included 3 0 casesof AZFc deletion . Chromosome karyotype abnormalities and Y chromosome mi-crodeletions were detected at the same timein 5 patients . Conclusion The incidence of chromosomal ab-normalities and Y chromosome microdeletion was higher in patients with non-obstructive azoospermia or se-vere oligozoospermia . It was recommended to simultaneouslyperform karyotype analysis and screening for Y chromosomal microdeletions in azoospermia factor ( AZF ) region for them to provide high quality diagnosis and treatment .