Teratozoospermia: spotlight on the main genetic actors in the human
Abstract
Background Male infertility affects >20 million men worldwide and represents a major health concern. Although multifactorial, male infertility has a strong genetic basis which has so far not been extensively studied. Recent studies of consanguineous families and of small cohorts of phenotypically homogeneous patients have however allowed the identification of a number of autosomal recessive causes of teratozoospermia. Homozygous mutations of aurora kinase C (AURKC) were first described to be responsible for most cases of macrozoospermia. Other genes defects have later been identified in spermatogenesis associated 16 (SPATA16) and dpy-19-like 2 (DPY19L2) in patients with globozoospermia and more recently in dynein, axonemal, heavy chain 1 (DNAH1) in a heterogeneous group of patients presenting with flagellar abnormalities previously described as dysplasia of the fibrous sheath or short/stump tail syndromes, which we propose to call multiple morphological abnormalities of the flagella (MMAF). Methods A comprehensive review of the scientific literature available in PubMed/Medline was conducted for studies on human genetics, experimental models and physiopathology related to teratozoospermia in particular globozoospermia, large headed spermatozoa and flagellar abnormalities. The search included all articles with an English abstract available online before September 2014. Results Molecular studies of numerous unrelated patients with globozoospermia and large-headed spermatozoa con…
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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 [41]
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Self-citationMutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia
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- Authors
- Coutton, C., Escoffier, J., Martinez, G., Arnoult, C., & Ray, P. F.
- Affiliations
- Inserm (FR)
- University of Geneva (CH)
- Corresponding author
- Ray, P. F.
- Venue
- Human Reproduction Update
- Publisher
- Oxford University Press (OUP)
- Published
- 2015-04-17
- Volume
- 21
- Issue
- 4
- Pages
- 455-485
- ISSN
- 1355-4786 (ISSN-L)
- 1460-2369
- OpenAlex
- W1997381325
- Cited by
- 352
- References
- 6
- Citations by year
- 2026: 17 · 2025: 35 · 2024: 29 · 2023: 44 · 2022: 45 · 2021: 38 · 2020: 39 · 2019: 35 · 2018: 29 · 2017: 18 · 2016: 16 · 2015: 6 · 2012: 1
- FWCI
- 3.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Reproduction Update (publishedVersion)
- PubMed (publishedVersion)
- reroDoc Digital Library (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Agence Nationale de la Recherche (ANR-14-CE15-0002)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- teratozoospermia, male infertility, globozoospermia, DPY19L2, AURKC, DNAH1, primary ciliary dyskinesia, axonemal dynein, spermatogenesis, autosomal recessive mutation, sperm flagellum
- MeSH terms
- Alleles, Animals, Dyneins, Humans, Infertility, Male, Male, Membrane Proteins, Spermatogenesis, Spermatozoa, Point Mutation, Homeodomain Proteins, Vesicular Transport Proteins, Aurora Kinase C
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