Reproductive Failure in Patients With Various Percentages of Macronuclear Spermatozoa: High Level of Aneuploid and Polyploid Spermatozoa
Abstract
The aim of this study was to describe the association between various percentages of macronuclear spermatozoa (MNSs), sperm chromosomal abnormalities, and reproductive failure in 4 patients. One patient had a familial history of perinatal deaths. Patients were selected according to the coexistence of normal-sized spermatozoa and MNSs (19%, 22%, 29.5%, and 49.7%). Fluorescent in situ hybridization (FISH) on spermatozoa and semiautomated analysis of nuclear surface were assessed. All patients were characterized by an oligoasthenozoospermia. Three patients had a prevalence of irregular MNSs and prevalence of nondisjunction at the first meiotic division. One patient had a prevalence of regular MNSs and a prevalence of nondisjunction at the second meiotic division. FISH also showed a high rate of polyploidy and various rates of aneuploid sperm. The percentage of sperm with abnormal chromosome complements (25.6%, 43.6%, 51.4%, 71.7% with 3-color FISH) was higher than the percentage of MNSs. A population of apparently normal-sized spermatozoa that could be used for intracytoplasmic sperm injection (ICSI) was aneuploid. Sperm nuclear surface analysis revealed either a shift toward elevated values or distinguished 2 sperm subpopulations: normal and macronuclear. Patients underwent 7 ICSI cycles. The fertilization rate was low for 3 patients (50%, 40%, 50%) and normal for 1 patient (83.3%). Pregnancy rate per transfer was low (14.3%). The present study shows that the macronuclear pheno…
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For patients who do not carry AURKC mutations and who have a lower percentage of macrocephalic spermatozoa, only rare spontaneous births or births after ICSI have been reported.
“For patients who do not carry AURKC mutations and who have a lower percentage of macrocephalic spermatozoa in the ejaculate, only rare spontaneous births or births after ICSI have been reported [36, 42, 43, 45, 46, 47, 48, 49] and ICSI may be debated [50].”
From Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group (2026) · cites this paper as [36]
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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
Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia
Kobesiy, M. M., Foda, B. M., Ali, O. S. M., Fahmy, I., & Ismail, S. M. (2020) · Andrologia · doi:10.1111/and.13619 · Cited by 9 · see citing works
Gatimel, 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
- Achard, V., Paulmyer‐Lacroix, O., Mercier, G., Porcu, G., Saias‐Magnan, J., Metzler‐Guillemain, C., & Guichaoua, M. R.
- Affiliations
- Hôpital de la Conception (FR)
- Corresponding author
- Guichaoua, Marie Roberte
- Venue
- Journal of Andrology
- Publisher
- Wiley
- Published
- 2007-07-08
- Volume
- 28
- Issue
- 4
- Pages
- 600-606
- ISSN
- 0196-3635 (ISSN-L)
- 1939-4640
- OpenAlex
- W2019896261
- Cited by
- 40
- References
- 1
- Citations by year
- 2026: 1 · 2025: 1 · 2022: 1 · 2020: 2 · 2018: 3 · 2017: 2 · 2016: 3 · 2015: 5 · 2013: 1
- FWCI
- 6.26
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Andrology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
- Keywords
- sperm chromosomal abnormalities, reproductive failure, oligoasthenozoospermia, meiotic nondisjunction, intracytoplasmic sperm injection, fertilization rate, perinatal death, genetic counseling
- MeSH terms
- Aneuploidy, Automation, Cell Nucleus, Female, Humans, Infertility, Male, Male, Polyploidy, Pregnancy, Pregnancy Outcome, Retrospective Studies, Semen, Sperm Head, Spermatozoa, In Situ Hybridization, Fluorescence, Sperm Injections, Intracytoplasmic, Chromosomes, Human, X, Chromosomes, Human, Y
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