Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review
Open accessAbstract
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.
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Live births after ICSI have been reported in acephalic/pinhead sperm syndrome, in particular when the few residual spermatozoa with a head and a tail were used.
“However, live births after ICSI have been reported, in particular when the few residual spermatozoa with a head and a tail were used, [50, 60, 61, 62, 63].”
From Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group (2026) · cites this paper as [63]
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Zhang, Y., Liu, G., Huang, L., He, X., Su, Y., Nie, X., Mao, Z., & Xing, X. (2024) · Molecular Human Reproduction · doi:10.1093/molehr/gaae022 · Cited by 14 · see citing works
Molecular models of the sperm head–tail coupling apparatus
Buglak, D. B., Galletta, B. J., & Rusan, N. M. (2025) · Journal of Cell Science · doi:10.1242/jcs.264168 · Cited by 10 · see citing works
Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression
Xu, W., Yao, Z., Li, Y., Wang, K., Kong, S., Wang, Y., Xiang, M., Zhu, F., Wang, F., & Zhang, H. (2023) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-023-02874-0 · Cited by 6 · see citing works
Genetic Variants Causing Teratozoospermia in Humans
Kleshchev, M. A., Осадчук, А. В., & Osadchuk, L. V. (2024) · Russian Journal of Genetics · doi:10.1134/s1022795424701023 · Cited by 3 · see citing works
Current Approach to Genetic Causes of Male Infertility and Genetic Counseling
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The spermatozoon neck role in infertility and intracytoplasmic sperm injection outcomes
Kluczynski, D. F., Nester, I., Prine, H. D., Heising, K., Gartee, E., Adegoke, D., Eriksen, G., Liber, C., Byreddy, Y. R., Dua, R., et al. (2026) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-025-03769-y · Cited by 2 · see citing works
The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man
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Genetic and spermatological aspects of acephalic sperm syndrome
Khayat, S. S., Bragina, E. E., Курило, Л. Ф., & Chernykh, V. B. (2023) · Andrology and Genital Surgery · doi:10.17650/2070-9781-2023-24-4-25-36 · Cited by 1 · see citing works
Acephalic Spermatozoa Syndrome: A Case Report
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Genetic investigations of SEPTIN12 gene in infertile men with acephalic sperm syndrome
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HOOK1 Gene Expression and DNA Methylation in Obesity and Related Cardiometabolic Traits
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A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects
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Divergent microtubule-organizing center strategies in mammalian gametogenesis
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- Authors
- Mazaheri Moghaddam, M., Mazaheri Moghaddam, M., Hamzeiy, H., Baghbanzadeh, A., Pashazadeh, F., & Sakhinia, E.
- Affiliations
- Tabriz University of Medical Sciences (IR)
- Corresponding author
- Sakhinia, Ebrahim
- Venue
- Journal of Assisted Reproduction and Genetics
- Published
- 2021-01-15
- Volume
- 38
- Issue
- 3
- Pages
- 573-586
- ISSN
- 0740-7769 (ISSN-L)
- 1058-0468
- 1573-7330
- PMC
- PMC7910383
- OpenAlex
- W3122560228
- Cited by
- 25
- References
- 84
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 5 · 2023: 5 · 2022: 4 · 2021: 1
- FWCI
- 0.62
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Assisted Reproduction and Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Keywords
- acephalic spermatozoa syndrome, teratozoospermia, male infertility, genetic variants, BRDT, TSGA10
- MeSH terms
- Humans, Infertility, Male, Male, Membrane Proteins, Mutation, Phenotype, Spermatozoa, Syndrome, Sperm Injections, Intracytoplasmic
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