Marziyeh Mazaheri Moghaddam1,2, Madiheh Mazaheri Moghaddam3, Hamid Hamzeiy4,5, Amir Baghbanzadeh1, Fariba Pashazadeh6, Ebrahim Sakhinia7,8. 1. Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. 2. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. 3. Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. 4. Tabriz Genetic Analysis Centre (TGAC), Tabriz University of Medical Sciences, Tabriz, Iran. 5. Genomize Inc., Istanbul, Turkey. 6. Research Center for Evidence-Based Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. 7. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. esakhinia@yahoo.co.uk. 8. Tabriz Genetic Analysis Centre (TGAC), Tabriz University of Medical Sciences, Tabriz, Iran. esakhinia@yahoo.co.uk.
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.
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.
Authors: F Zegers-Hochschild; G D Adamson; J de Mouzon; O Ishihara; R Mansour; K Nygren; E Sullivan; S Vanderpoel Journal: Fertil Steril Date: 2009-10-14 Impact factor: 7.329
Authors: Jan Homann; Tim Osburg; Olena Ohlei; Valerija Dobricic; Laura Deecke; Isabelle Bos; Rik Vandenberghe; Silvy Gabel; Philip Scheltens; Charlotte E Teunissen; Sebastiaan Engelborghs; Giovanni Frisoni; Olivier Blin; Jill C Richardson; Regis Bordet; Alberto Lleó; Daniel Alcolea; Julius Popp; Christopher Clark; Gwendoline Peyratout; Pablo Martinez-Lage; Mikel Tainta; Richard J B Dobson; Cristina Legido-Quigley; Kristel Sleegers; Christine Van Broeckhoven; Michael Wittig; Andre Franke; Christina M Lill; Kaj Blennow; Henrik Zetterberg; Simon Lovestone; Johannes Streffer; Mara Ten Kate; Stephanie J B Vos; Frederik Barkhof; Pieter Jelle Visser; Lars Bertram Journal: Front Aging Neurosci Date: 2022-03-21 Impact factor: 5.750