Successful delivery following ICSI with macrocephalic sperm head syndrome: a case report
Open accessAbstract
This article reports a case of macrocephalic sperm head syndrome, which is defined as the presence of a very high percentage of spermatozoa with enlarged heads and multiple flagellae, together with detailed morphological analysis. After a couple presented with infertility, sperm analysis showed severe teratozoospermia and almost all of the spermatozoa had macrocephaly with multiple tails. The morphological analysis revealed that most of the sperm heads contained several nuclei and had a similar number of tails as that of nuclei. However, detailed analysis revealed that there were a very few spermatozoa with an almost normal morphology. After genetic counselling, intracytoplasmic sperm injection was performed using a few spermatozoa that had an almost normal morphology, resulting in pregnancy and successful delivery. Even in macrocephalic sperm head syndrome, which may be caused by meiotic division failure, pregnancy is possible if some spermatozoa with almost normal morphology can be utilized, although there may be genetic risks.
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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 [47]
The Case report describes one healthy birth after ICSI, and the Discussion calls it the first known such report for this syndrome. But the paper does not establish that this patient lacked an AURKC mutation or had a lower percentage of macrocephalic spermatozoa; the Case report says almost all were macrocephalic, with only 0.33% having almost normal morphology. Page numbers are not available in our copy. (LLM, conf=0.87)
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Research works printed but not linked: 3
- Greenbaum, M.P., Yan, W., Wu, M.H., Lin, Y.N., Agno, J.E., Sharma, M., Braun, R.E., Rajkovic, A., Matzuk, M.M., 2006. TEX14 is essential for intercellular bridges and fertility in male mice. Proc. Natl. Acad. Sci. USA 103, 4982-4987.
- In't Veld, P.A., Broekmans, F.J., de France, H.F., Pearson, P.L., Pieters, M.H., van Kooij, R.J., 1997. Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa. Hum. Reprod. 12, 752-754.
- Perrin, A., Morel, F., Moy, L., Colleu, D., Amice, V., De Braekeleer, M., 2008. Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature. Fertil. Steril. 90, 1201.
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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
- Shimizu, Y., Kiumura, F., Kaku, S., Izuno, M., Tomita, K., Thumkeo, D., & Murakami, T.
- Affiliations
- Shiga University of Medical Science (JP)
- Kyoto University (JP)
- Corresponding author
- Shimizu, Yoshihiko
- Venue
- Reproductive BioMedicine Online
- Publisher
- Elsevier BV
- Published
- 2012-06
- Volume
- 24
- Issue
- 6
- Pages
- 603-605
- ISSN
- 1472-6483 (ISSN-L)
- OpenAlex
- W2071488250
- Cited by
- 11
- References
- 0
- Citations by year
- 2025: 1 · 2024: 1 · 2021: 1 · 2020: 1 · 2017: 2 · 2016: 1 · 2015: 2 · 2013: 1 · 2012: 1
- FWCI
- 1.49
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Reproductive BioMedicine Online (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
- intracytoplasmic sperm injection, teratozoospermia, male infertility, sperm morphology, genetic counseling, pregnancy outcomes
- MeSH terms
- Adult, Female, Humans, Infertility, Male, Male, Pregnancy, Pregnancy Outcome, Sperm Head, Spermatozoa, Syndrome, Treatment Outcome, Sperm Injections, Intracytoplasmic, Semen Analysis
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