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To investigate the incidence of chromosome polymorphisms and their influence on semen quality and sperm DNA integrity in male patients receiving in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI). We retrospectively analyzed the chromosomal karyotypes and the types and incidence rate of chromosome polymorphisms in 2 370 male patients undergoing IVF/ICSI between June 2016 and June 2018. We classified the patients into groups A (with variation in the secondary constriction region in the autosomal long arm), B (with variation in the short arm of the D/G group chromosomes), C (with interbrachial inversion of chromosome 9) and D (with Y chromosome polymorphisms), and compared the semen parameters and sperm DNA fragmentation indexes (DFI) between the patients with chromosome polymorphisms and those with normal chromosomes. Totally, 154 (6.50%) of the patients undergoing IVF/ICSI were found with chromosome polymorphisms, including 34 cases of secondary constriction variation in the long arm of the autosome (1.43% [34/2 370], 22.08% [34/154]), 82 cases of short arm polymorphisms of the D/G group chromosomes (3.46% [82/2 370], 53.25% [82/154]), 26 cases of interbrachial inversion of chromosome 9 (1.10% [26/2 370], 16.88% [26/154]), 10 cases of Y chromosome polymorphisms (0.42% [10/2 370], 6.50% [10/154]), and 2 cases of mixed chromosome polymorphisms (0.08% [2/2 370], 1.42% [2/154]). The total sperm count was lower in group D than in the other polymorphism groups and the normal chromosome group, but with no statistically significant difference among the five groups (P > 0.05). The sperm progressive motility was also lower in group D than in the other five groups, with statistically significant difference from group B (27.5 ± 13.5 vs. 41.5 ± 21.1, P = 0.027), but not from the other groups (P > 0.05). No statistically significant difference was observed in the sperm DFI between the polymorphism groups and the normal chromosome group (P > 0.05), or among the polymorphism groups (P > 0.05). The proportion of normal semen was lower in group D than in the other four groups, but with no statistically significant difference among the five groups (P > 0.05). The incidence rate of asthenospermia was higher in group D than in the other four groups, but with no statistically significant difference among the five groups (P > 0.05), and so was that of oligoasthenospermia, with statistically significant difference from the normal chromosome group (30.0% vs 8.0%, P = 0.041), but not from the other polymorphism groups (P > 0.05). Short arm polymorphisms of the D/G group chromosomes are the most common type of chromosome polymorphisms in male patients undergoing IVF/ICSI. Polymorphisms of the Y chromosome have a negative effect on semen quality, while those of the other chromosomes do not significantly affect semen quality and sperm DNA integrity.

Citation

Xian-Bao Mao, Lin-Tao Xue, Wei-Ying Mo, Yao-Xi Mo, Jun-Ping Cheng, Shi-Kai Wang, Yue-Yue Huang, Zheng-da Li, Xiao-Hui Zhang, Ting-Ting Zhou, Ping-Pin Wei, Wei-Hong Tan. Chromosome polymorphisms and their influence on semen quality and sperm DNA integrity in males undergoing IVF/ICSI]. Zhonghua nan ke xue = National journal of andrology. 2019 Mar;25(3):223-230

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PMID: 32216240

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