Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature
Open accessAbstract
Objective To determine the meiotic segregation in large-headed, multiple-tailed spermatozoa. Design Analysis of sperm nuclei by fluorescence in situ hybridization (FISH). Setting University hospital. Patient(s) A 34-year-old man with 100% morphologically abnormal spermatozoa. Intervention(s) Dual-color FISH for chromosomes 13 and 21 and triple-color FISH for chromosomes X, Y, and 18 were performed. Main outcome measure(s) Aneuploidy rates. Result(s) More than 99% of the spermatozoa had abnormal content for chromosomes X, Y, 13, 18, and 21. Diploidy, triploidy, and tetraploidy rates were found to be 18.42%, 6.14%, and 33.99% in triple-color FISH and to be 16.09%, 16.28%, and 38.95% in dual-color FISH. Conclusion(s) Our results and those from other investigators show that large-headed, multiple-tailed spermatozoa are associated with a high rate of polyploidy and aneuploidy. Intracytoplasmic sperm injection should not be recommended to those patients, not only because of its low success rate but also because of its high genetic risk.
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Macrozoospermia is associated with an increased risk of sperm aneuploidy, and of polyploidy in particular.
“Numerous studies have shown an association between macrozoospermia and an increased risk of sperm aneuploidy, and of polyploidy in particular [38, 39, 40, 41] (Supporting Information S1).”
From Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group (2026) · cites this paper as [40]
Cites
Do morphological anomalies reflect chromosomal aneuploidies?*: Case Report
Viville, S., Mollard, R., Bach, M.-L., Falquet, C., Gerlinger, P., & Warter, S. (2000) · Human Reproduction · doi:10.1093/humrep/15.12.2563 · Cited by 129 · see citing works
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Genetic aspects of monomorphic teratozoospermia: a review
De Braekeleer, M., Nguyen, M. H., Morel, F., & Perrin, A. (2015) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-015-0433-2 · Cited by 135 · see citing works
Self-citationGatimel, N., Barbotin, A., Mery, L., Beauvillard, D., Bendayan, M., Boursier, A., Boueilh, T., Pereira, B., Chammas, J., Jacquet, J., et al. (2026) · Andrology · doi:10.1111/andr.70134 · Cited by 2 · see citing works
- Authors
- Perrin, A., Morel, F., Moy, L., Colleu, D., Amice, V., & De Braekeleer, M.
- Affiliations
- Université de Bretagne Occidentale (FR)
- Clinique Mutualiste La Sagesse (FR)
- ORCID
- Perrin, Aurore
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2008-10
- Volume
- 90
- Issue
- 4
- Pages
- 1201.e13-1201.e17
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W1975248508
- Cited by
- 66
- References
- 1
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 2 · 2023: 3 · 2022: 1 · 2021: 5 · 2020: 2 · 2019: 1 · 2018: 3 · 2017: 8 · 2016: 4 · 2015: 7 · 2014: 2 · 2013: 2 · 2012: 4
- FWCI
- 7.33
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Physiology › Reproductive biology and impacts on aquatic species
- Keywords
- sperm aneuploidy, meiotic segregation, polyploidy, triploidy, tetraploidy, intracytoplasmic sperm injection, genetic risk, chromosome 13, chromosome 21, chromosome 18, X chromosome, Y chromosome
- MeSH terms
- Aneuploidy, Humans, Male, Middle Aged, Oligospermia, Sperm Head, Sperm Tail, Azoospermia
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