Abstract:Objective: To explore the clinic value of analysis of karyotype and detection of azoospermia factor (AZF) in male infertility. Method:A retrospective analysis was performed on 1899 male infertility patients due to severe oligospermia and non-obstructive azoospermia who underwent the analysis of karyotype and AZF microdeletions in reproductive medicine center, the first affiliated hospital of Nanjing Medical University during January 2017 to June 2020. Results: 225 of 1899 male patients were abnormal chromosome karyotypes, which account for 11.85%. The most common abnormal chromosome karyotypes was 47,XXY, which account for 41.78% (94/225). The proportion of AZF microdeletions was 11.32% (215/1899) in total patients. AZFc microdeletions was the most common types in AZF microdeletions patients, which account for 69.30% (149/215). Conclusion: Combined karyotype analysis with AZF detection could provide evidence for the etiology of male infertility, which would afford a more definitive genetic diagnosis.