Analysis of Y chromosome abnormalities and azoospermia factor microdeletions in male infertility

Objective To study the relationship between Y chromosome abnormalities and AZF microdeletions in males with reproductive failure. Methods A case-control study was conducted in 2694 reproductive failure men with age ranges from 23 to 49 years old from the Institute of Reproductive Medicine of Jilin Province.Patients were divided into three groups:spermatogenic failure group (n=1332),disadvantage pregnancy outcomes group (n=994) and adverse birth outcomes group.All patients underwent chromosomal karyotype analysis (G-banding).AZF microdeletions were further investigated in patients with Y chromosomal abnormalities by PCR.The Chi-square test was used to compare the frequency of Y chromosome abnormalities in three groups. Results Of the 51 cases of Y chromosome abnormalities (1.89%,51/2694),32 were (2.40%,32/1332) in the spermatogenic failure group,15 were (1.51%,15/994) in disadvantage pregnancy outcomes group and 4 were (1.09%,4/368) in adverse birth outcomes group.There was no significant difference in Y chromosome abnormalities among different groups (χ2=3.895,P>0.05).AZF microdeletions were detected in 10 cases (19.61%,10/51) of Y chromosome abnormalities patients with spermatogenic failure. Conclusions The incidence of Y chromosomal abnormalities in three reproductive failure groups is similar.Chromosome karyotype analysis and AZF microdeletions examination could identify the genetics etiology in males with reproductive failure.(Chin J Lab Med,2013,36:50-52) Key words: Chromosome aberrations; Chromosomes; human; Y; Infertility; male