Polyploidy in large-headed sperm: FISH study of three cases

Devillard, Françoise; Metzler‐Guillemain, Catherine; Pelletier, R.; DeRobertis, C.; Bergues, U.; Hennebicq, Sylviane; Guichaoua, Marie Roberte; Sèle, B; Rousseaux, Sophie

doi:10.1093/humrep/17.5.1292

Cited by 94 publications

(62 citation statements)

References 24 publications

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“…68,69 There are a few case reports of extraordinarily high levels of aneuploid and polyploid sperm (50-100%) in individuals with a high proportion of macrocephalic, multinucleated and multiflagellate sperm. [70][71][72][73] It perhaps counterintuitive but there is little or no evidence to suggest that there is a preferential selection of chromosomally normal sperm for fertilization. In fact, the threefold increase in aneuploidy observed in sperm from infertile men, is mirrored by a threefold increase in de novo chromosome abnormalities observed in conceptuses after intracytoplamic sperm injection compared to the general population.…”

Section: The Relationship Between Chromosome Aneuploidy and Male Infementioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

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Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.

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Section: The Relationship Between Chromosome Aneuploidy and Male Infementioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

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“…In case of fetuses conceived after ICSI, increased aneuploidy rate has been reported [17], which particularly concerned gonosomes [18], probably due to increased sperm aneuploidy rate in infertile patients [19][20][21]. Spermatozoa morphological abnormalities, including macrocephalia [22,23], asthenospermia [24] and globozoospermia [25,26] are known to be associated with increased aneuploidy rate. These abnormalities are regarded as a justification for preimplantation genetic screening in some countries [8,9].…”

Section: Introductionmentioning

confidence: 99%

Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members

Vialard

Hammoud

Molina-Gomès

et al. 2008

J Assist Reprod Genet

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Purpose Implantation failure is known to be associated with an increased risk of aneuploidy in embryos, a situation leading to a pre-implantation genetic screening, not allowed in different countries like France. Our aim was to evaluate the gamete aneuploidy incidence in this context, using first polar body and spermatozoa aneuploidy screening. Methods Three groups were considered: 11 couples with pregnancy obtained after IVF for female infertility (group 1); 20 couples with pregnancy obtained after IVF for male infertility (group 2); and 35 couples with implantation failure (group 3). In group 3, 28 couples treated by ICSI volunteered for first polar body analysis (PB1). Results Spermatozoa aneuploidy rate was increased in groups 2 (1.6%) and 3 (2.1%) in comparison to group 1 (0.6%). PB1 aneuploidy rate was 35.4% in group 3. Finally, eight couples (32%) had no particular chromosomal risk in gametes, 15/25 (60%) presented an increased spermatic (>2%) or oocyte (>1/3) aneuploidy rate, and 2/25 (8%) had both. Conclusion Those results confirm that implantation failure has a heterogeneous origin, that gamete chromosome abnormality rate is one of the major contributing factors, and that 1st Polar body and spermatozoa aneuploidy screening or pre-implantation genetics screening may be indicated for these couples.

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“…19,20 It is in fact a meiotic non-disjunction with no cell division and spermiogenesis. In a study on ten patients with polyploid macrocephalic spermatozoa, Dieterich demonstrated a mutation of the Aurora Kinase C gene (AURKC) in a molecular analysis.…”

Section: Pathogenesismentioning

confidence: 99%

Polyflagellated macrocephalic spermatozoa: failure factor in IVF/ICSI

Fanny

Jean-Marc

Stephane

et al. 2017

Int J Reprod Contracept Obstet Gynecol

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The authors report two cases of male infertility characterized by spermatic abnormalities of polyflagellated macrocephalic spermatozoa type affecting the entire gametes population. They demonstrate, on the one hand, the technical limitations of microinjection with such spermatozoa due to the large volume of their head and, on the other hand, the unfavourable outcome of the IVF-ICSI with this type of spermatozoa carrying abnormalities constituent. Molecular analysis of the somatic DNA of these subjects revealed a homozygous c.144delC mutation of the Aurora Kinase C gene. Consanguinity at the level of these subjects’ parents appears to be the main risk factor. This situation constitutes a factor of failure of the IVF and leads to direct the couple towards the donation of gametes or the adoption as solution to the parental project.

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Polyploidy in large-headed sperm: FISH study of three cases

Cited by 94 publications

References 24 publications

Meiotic recombination and male infertility: from basic science to clinical reality?

Meiotic recombination and male infertility: from basic science to clinical reality?

Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members

Polyflagellated macrocephalic spermatozoa: failure factor in IVF/ICSI

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