Semen parameters DNA fragmentation and sperm aneuploidy evaluation in the etiology of male infertility. By Miguel Maia [PORTUGUESE]

Posted by on in 1. Natural Sciences, 1.6 Biological sciences, ISSUE 3, Master's degree, Português (Portugal)

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 Video type: Master´s Defense Knowledge Field: Biological sciences Language: Portuguese Issue: ISSUE 3, December 2021

Semen Parameters DNA Fragmentation and Sperm Aneuploidy Evaluation in the Etiology of Male Infertility.

Avaliação dos parâmetros de espermograma: fragmentação de DNA e aneuploidias espermáticas na etiologia da infertilidade masculina .

Maia, Miguel*

(*) Faculty of Sciences of the University of Porto, Porto, Portugal.

Filmed: 17/11/2020 Submitted: 06/07/2021 Published: 13/12/2021
CITE THIS VIDEO-DISSERTATION

Maia, M. (2020, November 17). Semen parameters DNA fragmentation and sperm aneuploidy evaluation in the etiology of male infertility [Master’s dissertation, University of Porto]. https://www.academy-on.com/videos/miguel-maia-3

SYNOPSIS

With this work, we could clarify the relationships between semen parameters, sperm DNA fragmentation and sperm aneuploidy in our demographic region. Also, a new and more accurate cut-off point (18.8%) for sperm DNA fragmentation using TUNEL with fluorescence microscopy was established for our population. The results presented in this study contribute for a better reproductive counselling.

Com este trabalho foi possível clarificar as relações entre parâmetros de espermograma, fragmentação de DNA do esperma e aneuploidias espermáticas na nossa região demográfica. Para além disso, um novo ponto limiar (18.8%) de fragmentação de DNA do esperma, usando a técnica de TUNEL foi definido para a nossa população. Estes resultados podem contribuir para um melhor aconselhamento reprodutivo.

AUTHOR BIOGRAPHY

Miguel Martins Maia is from Aveiro, Portugal. In 2018 he graduated in Biology at the Faculty of Science of University of Porto. In 2020, he completed his master degree on Cellular and Molecular Biology at Faculty of Science of University of Porto, with a thesis focused on male infertility. He is currently working on CGC Genetics as laboratory technician in the NGS team.

ABSTRACT

There are several causes of infertility. Considering male infertility, studies beyond sperm parameters seem to be important to be performed. Some studies were performed to understand the clinical utility of sperm aneuploidies and sperm DNA fragmentation tests, however implementation in routine diagnosis have not yet been performed. Taking this into account, our main goal was to search for those relationships and evaluate if sperm aneuploidies and sperm DNA fragmentation should be included as valid tests in the routine investigation of male infertility. Additionally, we aimed to define a cut-off value above which significantly increased sperm DNA fragmentation can compromise male fertility. In this study, 835 individuals with clinical indication of infertility from 2007 to 2019 were included. Semen samples were investigated for conventional semen parameters, sperm DNA fragmentation assessed by Terminal deoxynucleotidyl transferase dUTP nick-end labelling and sperm aneuploidies by using Fluorescence in situ Hybridization. Male age seemed to trigger sperm DNA fragmentation. Sperm DNA fragmentation analysis seems to be more indicated for oligozoospermic men or individuals with abnormalities in association. On the other hand, sperm aneuploidies testing could be pertinent for oligoteratozoospermic (OT) or oligoastenoteratozoospermic (OAT). A statistically significant and positive association between sperm DNA fragmentation and sperm aneuploidies was also found. Additionally, a cut-off point of 18.8% of sperm DNA fragmentation was established for our population. This study helped to better understand the interaction between these male factors and in which cases should be performed any of these tests for routine investigation of male infertility. Additionally, it allowed to recommend a new cut-off for sperm DNA fragmentation as the reference value above which male fertility status could be seriously compromised. This contributes for a better reproductive counselling.

Existem várias causas de infertilidade. Na infertilidade masculina, a realização de certos estudos podem revelar-se importantes, como o estudo das aneuploidias e da fragmentação de DNA espermático. No entanto, a implementação destes testes na prática clínica ainda não foi realizada. O principal objetivo deste estudo foi tentar aclarar estas relações e avaliar se estes testes deveriam ser incluídos na investigação de rotina da infertilidade masculina. Procurámos, também, estabelecer um valor cut-off a partir do qual uma diminuição significativa da qualidade espermática é observada. Neste estudo, foram incluídos 835 indivíduos com indicação clínica de infertilidade de 2007 a 2019. As amostras de sémen foram tratadas para avaliação dos parâmetros de espermograma, a fragmentação de DNA do esperma foi medida através da técnica de TUNEL e as aneuploidias espermáticas usando a técnica de FISH. A idade masculina parece estar relacionada com a fragmentação de DNA do esperma. O estudo da percentagem de fragmentação de DNA do esperma parece ser mais indicado em indivíduos oligozoospérmicos ou em indivíduos com anomalias associadas. Por outro lado, o estudo das aneuploidias espermáticas pode ser pertinente para indivíduos oligoteratozoospérmicos ou oligoastenoteratozoospérmicos. Foi ainda encontrada uma associação estatisticamente significativa e positiva entre a fragmentação de DNA e aneuploidias dos espermatozoides. Adicionalmente, um cut-off de 18.8% de fragmentação de DNA do esperma foi definido para a nossa população. Este estudo ajudou a compreender melhor a interação entre estes fatores masculinos e perceber em que casos estes testes devem ser realizados para a investigação da causa de infertilidade masculina. Além disso, um novo valor cut-off foi definido para a fragmentação de DNA espermático a partir do qual o estado da fertilidade masculina pode ficar comprometido. Deste modo, o estudo poderá contribuir para um melhor aconselhamento reprodutivo.

 KEYWORDS

Male infertility, sperm DNA fragmentation, sperm aneuploidies, semen parameters, TUNEL, advanced paternal age.

Infertilidade masculina, fragmentação de DNA do esperma, aneuploidias espermáticas, parâmetros de espermograma, TUNEL, idade paterna avançada.

 ACKNOWLEDGMENTS

We acknowledge Centro de Genética e Reprodução Professor Alberto Barros’s embryologist and clinical team and Mrs. Susana Coutinho from Centro Hospitalar Universitário São João for their support in data gathering.

 DISCLOSURES

The author certifies that there is no actual or potential conflict of interest in relation to this video article.

REFERENCES

Arumugam, M., Shetty, D. P., Kadandale, J. S., & Nalilu, S. K. (2019). Association of Sperm Aneuploidy Frequency and DNA Fragmentation Index in Infertile Men. J Reprod Infertil, 20(3), 121-126.

Brahem, S., Mehdi, M., Elghezal, H., & Saad, A. (2011b). The effects of male aging on semen quality, sperm DNA fragmentation and chromosomal abnormalities in an infertile population. J Assist Reprod Genet, 28(5), 425-432. doi:10.1007/s10815-011-9537-5

Cho, C. L., & Agarwal, A. (2018). Role of sperm DNA fragmentation in male factor infertility: A systematic review. Arab J Urol, 16(1), 21-34. doi:10.1016/j.aju.2017.11.002

Ioannou, D., Fortun, J., & Tempest, H. G. (2018). Meiotic nondisjunction and sperm aneuploidy in humans. Reproduction. doi:10.1530/REP-18-0318

Tandon, S. (2017). Sperm DNA fragmentation testing: where we stand in 2017. Transl Androl Urol, 6(Suppl 4), S697-S698. doi:10.21037/tau.2017.05.25

Zini, A., & Agarwal, A. (2018). A Clinician’s Guide to Sperm DNA and Chromatin Damage: Springer

COURSE

Master’s degree in Cell and Molecular Biology, Faculty of Sciences of the University of Porto, Porto, Portugal.


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