The research of chromosomal polymorphisms on male spermatogenesis and reproductive outcomes

Objective To investigate the effect of chromosome polymorphism on the male spermatogenesis and reproductive outcomes. Methods Totally 3 203 cases of male (infertile group), who were divided into normozoospermia group, aligozoospermia group, azoospermia group according to the sperm count of semen analysis, and 4 893 cases of donor (donor group) were involved the study. Semen analysis, karyotype analysis, and Y chromosome microdeletion test were compared between the groups. The reproductive outcomes of sperm donors and infertile patients were investigated. Results The incidence of polymorphism in infertile group and donor group was 4.62% and 3.78% respectively, and the difference was not statistically significant. The incidence of Yqh- in infertile patients increased significantly with the decrease of sperm count (0.15% in normozoospermia group, 0.22% in aligozoospermia group, 0.99% in azoospermia group), and the difference was statistically significant (P=0.033, compared between normozoospermia group and azoospermia group; P=0.027, compared between aligozoospermia group and azoospermia group), the rate of Y chromosome microdeletion in group C with Yqh- was 56.25% (9/16), significantly higher than that of other groups (P 0.05). Follow-up investigation found that the spontaneous abortion rate was 6.25% (3/48) and 6.67% (2/30) in people with polymorphic of donor group and infertile group respectively, no statistical significance (P>0.05), and no child birth defects were observed. Conclusion Part with azoospermia factor (AZF) microdeletion in Yqh- may lead to spermatogenesis, and other types of polymorphism have no obvious effect on male fertility. Key words: Chromosomal polymorphism; Male fertility; Assisted reproductive techonology(ART); Birth defect; Reproductive outcome