Analysis of Y chromosome microdeletions and sex hormone levels in 649 infertile males

Objective To investigate the correlation of molecular epidemiology mechanism with microdeletions of Y chromosome at different loci and sex hormone levels in male infertility. Methods A total of 649 infertile male patients admitted to the Reproductive Center of our hospital between August 2015 and August 2017 were included in the study. The venous blood was harvested for serum isolation and DNA genome extraction. Multiple PCR technique and electrochemiluminescence technique were used to examine Y chromosome microdeletions, and the levels of luteinizing hormone (LH) , follicle stimulating hormone (FSH) and testosterone (T) . Results There were 62 cases of Y chromosome microdeletions in the 649 infertile males, yieding a microdeletion rate being 9.55% (62/649) . Among them, AZFc microdeletion accounted for 75.80% (47/62) , AZFb+AZFc microdeletion accounted for 11.29% (7/62) , AZFa+AZFb+AZFc microdeletion accounted for 4.84% (3/62) , AZFa microdeletion accounted for 4.84% (3/62) , and AZFb microdeletion accounted for 3.23% (2/62) . The T level in the patients with AZFc microdeletion was higher than that in the patients without microdeletions (P=0.008) . The FSH level in the patients with AZFb+AZFc microdeletion was lower than that in those without microdeletions (P=0.019) . The FSH and LH levels in the patients with AZFa+AZFb+AZFc microdeletion were higher than those in the patients without microdeletions (P=0.012; P=0.009) , whereas the T level was lower than that in those without microdeletions (P=0.019) , respectively. Conclusion Y chromosome microdeletion is one of the causes of male infertility. AZFc microdeletion is the most common microdeletion, and microdeletions occurring at different AZF regions chromosome show significantly different effect on sex hormone levels. Key words: Y chromosome; Gonadal hormones; Gonadotropins; Azoospermia factor