Chromosomal analysis of spermatozoa with normal-sized heads in two infertile patients with macrocephalic sperm head syndrome
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Objective To study the chromosomal content of spermatozoa that could be selected for intracytoplasmic sperm injection (ICSI) in cases of macrocephalic sperm head syndrome. Design Case report. Setting Obstetrics, gynecology, urology, and reproductive biology departments. Patient(s) Two infertile patient candidates for ICSI presenting with total teratozoospermia (100%) with mainly large-headed spermatozoa (91% and 82%, respectively). Intervention(s) Fluorescence in situ hybridization with X, Y, 18 centromeric probes on unselected spermatozoa (all migrated spermatozoa) and specifically on selected spermatozoa with normal-sized heads. Main outcome measure(s) Percentage of polyploid, diploid, aneuploid, and normal haploid spermatozoa, according to X, Y, 18 chromosome centromeric probes on selected spermatozoa (head size compatible with ICSI). Result(s) All the nonselected spermatozoa were abnormal, diploid, or polyploid. The rate of normal ploidy (haploid cells) among the selected sperm population was 1 per 28 for patient 1 and 5 per 51 for patient 2. Conclusion(s) This very low proportion of normal haploid spermatozoa among selected spermatozoa contraindicated ICSI for the two patients. We suggest performance of this selection and analysis before including (or not), in an ICSI program, patients with macrocephalic sperm head syndrome, associated or not with preimplantation genetic diagnosis.
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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 [39]
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
Guthauser, B., Albert, M., Ferfouri, F., Ray, P. F., Rabiey, G., Selva, J., & Vialard, F. (2011) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2011.07.011 · Cited by 21 · 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
- Guthauser, B., Vialard, F., Dakouane, M., Izard, V., Albert, M., & Selva, J.
- Affiliations
- Inserm (FR)
- Bicêtre Hospital (FR)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Corresponding author
- Guthauser, Bruno
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2006-03
- Volume
- 85
- Issue
- 3
- Pages
- 750.e5-750.e7
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W2033560044
- Cited by
- 38
- References
- 1
- Citations by year
- 2025: 1 · 2024: 1 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 1 · 2015: 5 · 2014: 2 · 2013: 1 · 2012: 1
- FWCI
- 4.93
- 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
- Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
- Keywords
- sperm head size, male infertility, teratozoospermia, intracytoplasmic sperm injection, sperm selection, sperm chromosomal abnormalities, sperm aneuploidy, preimplantation genetic diagnosis
- MeSH terms
- Contraindications, Chromosome Aberrations, Chromosomes, Human, Pair 18, Diploidy, Humans, Infertility, Male, Male, Oligospermia, Ploidies, Polyploidy, Sperm Head, Spermatozoa, In Situ Hybridization, Fluorescence, Sperm Injections, Intracytoplasmic, Chromosomes, Human, X, Chromosomes, Human, Y
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