ArticleJournal of assisted reproduction and genetics2021
Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review.
Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014-2024).Human genomics · 2026Pooled it
- Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group.Andrology · 2026Guideline
- Article
- The spermatozoon neck role in infertility and intracytoplasmic sperm injection outcomes.Journal of assisted reproduction and genetics · 2026Review
- The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Advances in experimental medicine and biology · 2026Review
- A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects.Biomedicines · 2025Article
- Molecular models of the sperm head-tail coupling apparatus.Journal of cell science · 2025Review
- Review
- Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression.Journal of assisted reproduction and genetics · 2023Article
- A novel frameshift mutation inFrontiers in endocrinology · 2023Article
- The changing tide of human fertility.Human reproduction (Oxford, England) · 2022Article
- Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset.Frontiers in aging neuroscience · 2022Article
- Pathogenic Variants inFrontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAcephalic 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.
methodsA 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.
resultsTwenty 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.
conclusionASS 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.
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Registered trials
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