Cited by 135Sperm and Testicular FunctionReproductive biology and impacts on aquatic speciesReproductive Biology and Fertility

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Genetic aspects of monomorphic teratozoospermia: a review

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De Braekeleer, Marc, Nguyen, Minh Huong, Morel, Frédéric, Perrin, Aurore·2015·Journal of Assisted Reproduction and Genetics

DOI 10.1007/s10815-015-0433-2PMC PMC4380889

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Abstract

Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology over 85 % in sperm. When all the spermatozoa display a unique abnormality, teratozoospermia is said to be monomorphic. Two forms of monomorphic teratozoospermia, representing less than 1 % of male infertility, are recognized: macrozoospermia (also called macrocephalic sperm head syndrome) and globozoospermia (also called round-headed sperm syndrome). Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. Meiotic segregation studies in 30 males revealed that over 90 % of spermatozoa were aneuploid, mainly diploid. Sperm DNA fragmentation studies performed in a few patients showed an increase in DNA fragmentation index compared to fertile men. Four mutations in the AURKC gene, a key player in meiosis and more particularly in spermatogenesis, have been found to be responsible for macrozoospermia. Globozoospermia is characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. The rate of aneuploidy of various chromosomes in spermatozoa from 26 globozoospermic men was slightly increased compared to fertile men. However, this increase was of the same order as that commonly found in infertile men with altered sperm parameters. The majority of the studies found that globozoospermic males had a sperm DNA fragmentation index higher than in fertile men. Mutations or deletions in three genes, SPATA16, PICK1 and DPY19L2, have been shown to be responsible for globozoospermia. Identification of the genetic causes of macrozoospermia and globozoospermia should help refine diagnosis and treatment of these patients, avoiding long and painful treatments. Elucidating the molecular causes of these defects is of utmost importance as intracytoplasmic sperm injection (ICSI) is very disappointing in these two pathologies.

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Vicari E, Perdichizzi A, De Palma A, Burrello N, D’Agata R, Calogero AE. Globozoospermia is associated with chromatin structure abnormalities: case report. Hum Reprod. 2002;17:2128–33. · DOI

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Tournaye, H. J., Krausz, C. G., & Oates, R. D. (2016) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(16)30040-7 · Cited by 323
A systematic review and standardized clinical validity assessment of male infertility genes
Oud, M. S., Voložonoka, L., Smits, R. M., Vissers, L. E. L. M., Ramos, L., & Veltman, J. A. (2019) · Human Reproduction · doi:10.1093/humrep/dez022 · Cited by 209
Nuclear morphologies: their diversity and functional relevance
Skinner, B. M., & Johnson, E. E. P. (2016) · Chromosoma · doi:10.1007/s00412-016-0614-5 · Cited by 191
Concepts in diagnosis and therapy for male reproductive impairment
Tournaye, H. J., Krausz, C. G., & Oates, R. D. (2016) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(16)30043-2 · Cited by 154
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome
Zhu, F., Liu, C., Wang, F., Yang, X., Zhang, J., Wu, H., Zhang, Z., He, X., Zhang, Z., Zhou, P., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.06.010 · Cited by 136

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Authors: De Braekeleer, M., Nguyen, M. H., Morel, F., & Perrin, A.
Affiliations: Inserm (FR)
ORCID: Perrin, Aurore
Venue: Journal of Assisted Reproduction and Genetics
Publisher: Springer Science and Business Media LLC
Published: 2015-02-25
Volume: 32
Issue: 4
Pages: 615-623
ISSN: 0740-7769 (ISSN-L)
1058-0468
1573-7330
DOI: 10.1007/s10815-015-0433-2
PMC: PMC4380889
OpenAlex: W2082995757
Cited by: 135
References: 79
Citations by year: 2026: 7 · 2025: 9 · 2024: 18 · 2023: 12 · 2022: 13 · 2021: 17 · 2020: 18 · 2019: 11 · 2018: 10 · 2017: 9 · 2016: 8 · 2015: 2
FWCI: 1.47
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: Journal of Assisted Reproduction and Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
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 › Reproductive Medicine › Reproductive Biology and Fertility
Keywords: globozoospermia, male infertility, sperm morphology, sperm aneuploidy, sperm DNA fragmentation, PICK1, DPY19L2, meiotic segregation, intracytoplasmic sperm injection
MeSH terms: Humans, Infertility, Male, Male, Mutation, Spermatozoa, DNA Fragmentation

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Genetic aspects of monomorphic teratozoospermia: a review

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