Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
J Assist Reprod Genet. 2021 Mar;38(3):573-586. doi: 10.1007/s10815-020-02008-w. Epub 2021 Jan 15.
Acephalic spermatozoa syndrome (ASS) is known as a severe type of teratozoospermia, defined as semen composed of mostly headless spermatozoa that affect male fertility. In this regard, this systematic review aimed to discuss gene variants associated with acephalic spermatozoa phenotype as well as the clinical outcomes of intracytoplasmic sperm injection (ICSI) treatment for the acephalic spermatozoa-associated male infertility.
A systematic search was performed on PubMed, Embase, Scopus, and Ovid databases until May 17, 2020. This systematic scoping review was reported in terms of the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) statement.
Twenty articles were included in this systematic review. Whole-exome and Sanger sequencing have helped in the identification of variants in SUN5, PMFBP1, BRDT, TSGA10, DNAH6, HOOK1, and CEP112 genes as possible causes of this phenotype in humans. The results of the ICSI are conflicting due to both positive and negative reports of ICSI outcomes.
ASS has a genetic origin, and several genetic alterations related to the pathogenesis of this anomaly have been recently identified. Notably, only SUN5 and PMFBP1 mutations are well-known to be implicated in ASS. Accordingly, more functional studies are needed to confirm the pathogenicity of other variants. ICSI could provide a promising treatment for acephalic spermatozoa-associated male infertility. Besides the importance of sperm head-tail junction integrity, some other factors, whether within the sperm cell or female factors, may be involved in the ICSI outcome.
无头精子症（ASS）是一种严重的精子畸形症，其特征是精液中主要由无头精子组成，从而影响男性生育能力。在此方面，本系统综述旨在讨论与无头精子表型相关的基因变异，以及针对无头精子相关男性不育症进行卵胞浆内单精子注射（ICSI）治疗的临床结局。
对 PubMed、Embase、Scopus 和 Ovid 数据库进行了系统性检索，检索截至 2020 年 5 月 17 日。本系统综述性研究按照系统评价和荟萃分析扩展的首选报告项目（PRISMA-ScR）声明进行报告。
本系统综述共纳入 20 篇文章。全外显子组和 Sanger 测序有助于确定 SUN5、PMFBP1、BRDT、TSGA10、DNAH6、HOOK1 和 CEP112 基因中的变异可能是导致人类出现该表型的原因。由于 ICSI 结局的报告既有阳性也有阴性，因此 ICSI 的结果存在争议。
ASS 具有遗传起源，最近已确定与该异常发病机制相关的几种遗传改变。值得注意的是，只有 SUN5 和 PMFBP1 突变被认为与 ASS 有关。因此，需要进行更多的功能研究来确认其他变异的致病性。ICSI 可为无头精子相关男性不育症提供一种有前途的治疗方法。除了精子头-尾连接完整性的重要性外，精子内或女性因素中的其他一些因素可能与 ICSI 结局有关。
