Clinical value of combined detection of chromosomal karyotype and Y chromosome microdeletion in azoospermia or oligo-spermia / 临床检验杂志

ABSTRACT

Objective To analyze and diagnose the chromosomal genetic etiology of male patients with azoospermia or oligozoospermia,and investigate the clinical application value of combined detection of chromosomal karyotype and Y-chromosome microdeletion in azoospermia or oligozoospermia.Methods The clinical data and peripheral blood samples of 240 male patients with azoospermia or oli-gospermia in Luzhou district of Sichuan were collected.The karyotype analysis of peripheral blood lymphocytes were analyzed by G-ban-ding in conventional chromosomal culture.Multiplex PCR technology was used to detect Y chromosome microdeletions.Results A-mong the 240 male patients with azoospermia or oligospermia,179 cases of azoospermia and 61 cases of severe oligospermia were found.The detection rate of chromosome karyotype abnormalities was 22.92％(55/240),including 30 cases of chromosome number abnor-malities,21 chromosome structure abnormalities and 4 combined abnormalities.The detection rate of Y chromosome microdeletion ab-normalities was 10.42％(25/240)with the highest deletion rate of 7.08％for AZFc abnormalities.The combined detection rate for the abnormalities of karyotype and Y chromosome microdeletion was 30.83％(74/240),among which 6 patients showed abnormalities in both detections.The detection rate of combined detections by the two methods was higher than that of single method(x2=30.24,P＜0.001).Conclusion This study systematically reported the incidence and types of karyotypes and Y chromosome microdeletions in male azoospermia or oligospermia patients in Luzhou district of Sichuan.We suggest that the combined application of the two methods may improve the detection rate of abnormality,which provides important guidance for the etiological diagnosis of male infertility pa-tients,genetic counseling and reproductive therapy.