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Cited by 71Sperm and Testicular FunctionReproductive biology and impacts on aquatic speciesReproductive Biology and Fertility

Genetics of teratozoospermia: Back to the head

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Beurois, Julie, Cazin, Caroline, Kherraf, Zine-Eddine, Martinez, Guillaume, Celse, Tristan, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F. +1 more·2020·Best Practice & Research Clinical Endocrinology & Metabolism
DOI 10.1016/j.beem.2020.101473
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Abstract

Spermatozoa are polarized cells with a head and a flagellum joined by the connecting piece. Head integrity is critical for normal sperm function, and head defects consistently lead to male infertility. Abnormalities of the sperm head are among the most severe and characteristic sperm defects. Patients presenting with a monomorphic head sperm defects such as globozoospermia or marcrozoospermia were analyzed permitting to identify several key genes for spermatogenesis such as AURKC and DPY19L2. The study of patients with other specific sperm head defects such as acephalic spermatozoa have also enabled the identification of new infertility genes such as SUN5. Here, we review the genetic causes leading to morphological defects of sperm head. Advances in the genetics of male infertility are necessary to improve the management of infertility and will pave the road towards future strategies of treatments, especially for patients with the most severe phenotype as sperm head defects.

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  • Among all sperm morphological defects, head abnormalities are found to be the most severe form.

    “Among all sperm morphological defects, head abnormalities are found to be the most severe form (38).”

    From Isolated teratozoospermia: revisiting its relevance in male infertility: a narrative review (2024) · cites this paper as [38]

    The Abstract says sperm-head abnormalities are “among the most severe” sperm defects. That supports their severity, but not the citing sentence’s stronger claim that they are the single most severe form among all sperm morphological defects. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • 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 [50]

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Cited by

Sorted by citations

Authors
Beurois, J., Cazin, C., Kherraf, Z.-E., Martinez, G., Celse, T., Touré, A., Arnoult, C., Ray, P. F., & Coutton, C.
Affiliations
Centre National de la Recherche Scientifique (FR)
Corresponding author
Coutton, Charles
ORCID
Venue
Best Practice & Research Clinical Endocrinology & Metabolism
Publisher
Elsevier BV
Published
2020-12
Volume
34
Issue
6
Pages
101473
ISSN
1521-690X (ISSN-L)
DOI
10.1016/j.beem.2020.101473
OpenAlex
W3096795973
Cited by
71
References
3
Citations by year
2026: 5 · 2025: 11 · 2024: 18 · 2023: 18 · 2022: 11 · 2021: 8
FWCI
1.37
Type
journal article
Language
en
Open access
Licence
Locations
  • Best Practice & Research Clinical Endocrinology & Metabolism (acceptedVersion)
  • PubMed (publishedVersion)
  • HAL (submittedVersion, cc-by-nc)
Funders
Agence Nationale de la Recherche (ANR-19-CE17-0014)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Physiology › Reproductive biology and impacts on aquatic species
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
Keywords
teratozoospermia, sperm head abnormalities, male infertility, globozoospermia, AURKC, DPY19L2, spermatogenesis genes
MeSH terms
Teratozoospermia, Humans, Infertility, Male, Male, Membrane Proteins, Sperm Head, Spermatogenesis, Spermatozoa, Aurora Kinase C

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