ABSTRACT
There are many unknown genetic factors that lead to infertility in nonobstructive azoospermia men. Here, we performed whole-exome sequencing in blood samples obtained from 40 azoospermia patients with meiotic arrest and found a novel c.151_154del (p.D51fs) frame-shift mutation in exon 3 of the testis expressed 11 (TEX11) gene in one patient. Sanger sequencing analysis of the patient and 288 fertile men was performed to validate the mutation. Immunohistochemical analysis showed TEX11 expression in late-pachytene spermatocytes and in round spermatids in fertile human testes. In contrast, testes of the patient with TEX11 mutation underwent meiotic arrest and lacked TEX11 expression. Western blotting of human embryonic kidney (HEK293) cells transfected with a vector for the p.D51fs TEX11 variant detected no TEX11 expression. In conclusion, we identified a novel frame-shift mutation in the TEX11 gene in an azoospermia patient, emphasizing that this gene should be included in genetic screening panels for the clinical evaluation of azoospermia patients.
ABSTRACT
Antisperm antibodies (ASAs) are assumed to be a possible causative factor for male infertility, with ASAs detected in 5%-15% of infertile men but in only 1%-2% of fertile ones. It remains unclear whether ASAs have an adverse effect on the outcome of in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). This study investigated differences in the rates of fertilization, pregnancy, and live births associated with serum ASA-positive and ASA-negative men following IVF or ICSI. Five hundred and fifty-four consecutive infertile couples undergoing IVF (n = 399) or ICSI (n = 155) were included. The two-sample two-sided t-test and Chi-square or Fisher's exact test was used for statistical analysis. Lower rates of fertilization (41.7% vs 54.8%, P = 0.03), good embryos (18.9% vs 35.2%, P = 0.00), pregnancy (38.5% vs 59.4%, P = 0.00), and live births (25.8% vs 42.5%, P = 0.00) were observed in men of the IVF group with a positive serum ASA than in those with a negative ASA. ASA positivity/negativity correlated with pregnancy rates (P = 0.021, odds ratio [OR]: 0.630, 95% confidence interval [CI]: 0.425-0.932) and live birth rates (P = 0.010, OR: 1.409, 95% CI: 1.084-1.831) after controlling for the female serum follicle-stimulating hormone level and the couple's ages at IVF. Women coupled with ASA-positive men had lower live birth rates with IVF than with ICSI (25.8% and 47.4%, respectively; P = 0.07). Women coupled with ASA-positive men had lower rates of pregnancy and live births following IVF than those coupled with ASA-negative men but had a similar outcome with ICSI.