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. 2021 Mar;38(3):573-586.
doi: 10.1007/s10815-020-02008-w. Epub 2021 Jan 15.

Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review

Marziyeh Mazaheri Moghaddam  1   2 , Madiheh Mazaheri Moghaddam  3 , Hamid Hamzeiy  4   5 , Amir Baghbanzadeh  1 , Fariba Pashazadeh  6 , Ebrahim Sakhinia  7   8
Affiliations

Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review

Marziyeh Mazaheri Moghaddam et al. J Assist Reprod Genet. 2021 Mar.

Abstract

Purpose: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Acephalic spermatozoa syndrome (ASS); Headless spermatozoa; Intracytoplasmic sperm injection (ICSI); PMFBP1; SUN5; Whole-exome sequencing (WES).

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
A Schematic diagram of normal human spermatozoa. A normal spermatozoon is composed of the head and flagellum or tail. The neck of the sperm connects the head and tail. The head comprises of the nucleus and acrosome. The tail of the sperm is divided into the midpiece, principal piece, and end piece. Both of the proximal and distal centrioles are enclosed by the segmented columns. Also, the capitulum, a curved plate-like structure, encloses the proximal centriole cranially. The capitulum associates with the basal plate at the implantation fossa to link connecting pieces to sperm heads. Distal ends of the segmented columns attach to the outer dense fibers (ODFs). ODFs associate with outer microtubule doublets of the axoneme. The mitochondrial sheath is formed by the accumulation of mitochondria around the axoneme in the midpiece [4, 5]. Autodesk 3ds Max was used to create this artwork
Fig. 2
Fig. 2
Timeline of discoveries in human acephalic spermatozoa syndrome. Accurate information on the morphological features of the decaudated and decapitated sperm cells was obtained by the ultrastructural examinations in earlier studies. Recent descriptive data obtained from whole-exome sequencing (WES) and Sanger sequencing in humans has revealed acephalic spermatozoa syndrome-associated gene mutations. SUN5, Sad1 and UNC84 domain containing 5; BRDT, bromodomain testis associated; PMFBP1, polyamine modulated factor 1 binding protein 1; TSGA10, testis-specific gene antigen 10; DNAH6, dynein axonemal heavy chain 6; HOOK1, hook microtubule tethering protein 1; CEP112, centrosomal protein 112. Autodesk 3ds Max was used to create this artwork
Fig. 3
Fig. 3
A flow diagram of the studies included in this systematic scoping review
See this image and copyright information in PMC

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