Analysis of chromosomal genetic differences in 1,695 patients with oligozoospermia and azoospermia
Objective To analyze the chromosomal genetic characteristics of male patients with different degrees of oligozoospermia and azoospermia,and to investigate the correlation between chromosome karyotype analysis,Y chromosome microdeletion test,the severity of oligozoospermia,azoospermia and male infertility.Methods A total of 1,695 male patients diagnosed with oligozoospermia and azoospermia admitted to Beijing Obstetrics and Gynecology Hospital of Capital Medical University from January 2018 to December 2023 were collected as study objects,and peripheral blood samples were obtained for high-resolution chromosome karyotype analysis.Among those,590 patients with moderate,severe,extreme oligozoospermia and azoospermia patients were screened for Y chromosome microdeletions.Results Among the 1,695 cases,a total of 355(22.36%)were abnormal karyotypes.Specifically,there were 44 cases with aberrant chromosome structure,22 cases with abnormal chromosomal numbers,and 289 cases with polymorphic variations.Of 590 patients with moderate,severe,extreme oligozoospermia and azoospermia,17 cases(2.88%)had Y chromosome microdeletion.Of 138 patients with azoospermia,there were 11 cases(7.97%)of Klinefelter syndrome and 17 cases(12.32%)of Y chromosome microdeletion.Conclusions The proportion of chromosome abnormality in patients with oligospermia and azoospermia is higher than that in the general population.The occurrence of oligospermia and azoospermia may be related to some common chromosome karyotype polymorphisms.With the development of sequencing technology,genetic disease may be the first genetic factor of oligospermia and azoospermia.