RESUMO
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.
RESUMO
Objective@#To investigate the routine semen parameters and sperm morphological indexes of the patients with partial globozoospermia (PGZ).@*METHODS@#We included in this study 100 infertile males with PGZ and another 180 non-PGZ infertile men as controls. According to the proportion of round-headed sperm (RHS) in the semen, we classified the PGZ males into five subgroups: 25%－40%, 41%－55%, 56%－70%, 71%－85%, and 86%－99% RHS. We obtained sperm concentration, total sperm motility, the percentage of progressively motile sperm, teratozoospermia index (TZI), and sperm deformity index (SDI) from the subjects and compared them among different groups.@*RESULTS@#Statistically significant differences were found between the PGZ patients and non-PGZ controls in total sperm motility (［35.76±24.88］% vs ［62.03±10.20］%, P0.05), sperm concentration (［46.01±40.38］ vs ［54.00±25.15］ ×106/ml, P>0.05), or TZI (1.35±0.11 vs 1.34±0.54, P>0.05). There were also significant differences among the five PGZ subgroups in total sperm motility, progressive sperm motility, normal sperm morphology, TZI, and SDI (P0.05). Morphologically, the sperm head changed from heterogeneous to homogeneous with the increased proportion of round-headed sperm.@*CONCLUSIONS@#Different proportions of round-headed sperm are closely related to routine semen parameters and sperm morphological index in PGZ patients, which can help clinicians choose the proper assisted reproductive technology and predict the rate of fertilization for infertile males.
