NHC Key Laboratory of Male Reproduction and Genetics, Guangzhou, China.
Department of Central Laboratory of Family Planning Research Institute of Guangdong Province of China, Guangzhou, China.
Biomed Res Int. 2020 Feb 10;2020:6279795. doi: 10.1155/2020/6279795. eCollection 2020.
This review analyses the genetic mechanisms of acephalic spermatozoa (AS) defects, which are associated with primary infertility in men. Several target genes of headless sperms have been identified but intracytoplasmic sperm injection (ICSI) outcomes are complex. Based on electron microscopic observations, broken points of the sperm neck are AS defects that are based on various genes that can be classified into three subtypes: , , and genes of subtype II; and genes of subgroup III, while the genetic mechanism(s) and aetiology of AS defects of subtype I have not been described and remain to be explored. Interestingly, all AS sperm of subtype II achieved better ICSI outcomes than other subtypes, resulting in clinical pregnancies and live births. For subtype III, the failure of clinical pregnancy can be explained by the defects of paternal centrioles that arrest embryonic development; for subtype I, this was due to a lack of a distal centriole. Consequently, the embryo quality and potential ICSI results of AS defects can be predicted by the subtypes of AS defects. However, this conclusion with regard to ICSI outcomes based on subtypes still needs further research, while the existence of quality of oocyte and implantation failure in women cannot be ignored.
本文分析了无头精子（AS）缺陷的遗传机制，这些缺陷与男性原发性不育有关。已经确定了几个无头精子的靶基因，但胞质内精子注射（ICSI）的结果很复杂。基于电子显微镜观察，精子颈的断裂点是基于各种基因的 AS 缺陷，可以分为三种亚型：II 型基因；III 型亚组的 和 基因，而 I 型 AS 缺陷的遗传机制和病因尚未描述，仍有待探索。有趣的是，所有 II 型 AS 精子的 ICSI 结果都优于其他亚型，导致临床妊娠和活产。对于 III 型，临床妊娠失败可以用父代中心粒的缺陷来解释，该缺陷会导致胚胎发育停滞；对于 I 型，这是由于缺少远端中心粒。因此，可以通过 AS 缺陷的亚型来预测 AS 缺陷的胚胎质量和潜在 ICSI 结果。然而，基于亚型的 ICSI 结果的这一结论仍需要进一步研究，而女性卵子质量和着床失败的存在也不容忽视。
