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Varicocele and Male Infertility pp 37–53Cite as

Genetics and Epigenetics of Varicocele Pathophysiology

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Abstract

Varicocele is the main identifiable cause of male infertility. Despite the impairment of spermatogenesis and its associated infertility, not all men with varicocele are infertile or have alterations in semen parameters. Furthermore, varicocele can be corrected surgically, which may improve semen parameters. Given all of their adverse effects on male reproduction, the current description of varicocele pathophysiology cannot explain the variety of associated clinical manifestations and why varicocelectomy is effective in some cases only. Therefore, varicocele pathophysiology appears to be multifactorial and complex, and it is influenced by genetic alterations and is associated with a strong environmental component. Moreover, testicular environmental alterations caused by varicocele, such as increased temperature and oxidative stress, may lead to changes in gene expression due to epimutations that have implications in sperm production and fertility. Studies have demonstrated chromosomal disorders, gene mutations, polymorphisms, and alterations in gene expression that significantly influence the etiology of the condition. Here, we review the main genetic and epigenetic changes related to varicocele, highlighting the key findings from recent studies to provide a better understanding of the mechanisms involved in the pathophysiology underlying varicocele development.

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Authors and Affiliations

  1. Department of Gynecology and Obstetrics, Ribeirao Preto Medical School of University of Sao Paulo (USP), Ribeirao Preto, SP, Brazil

    Viviane Paiva Santana, Cristiana Libardi Miranda-Furtado & Rosana Maria dos Reis

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  1. Viviane Paiva Santana
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  2. Cristiana Libardi Miranda-Furtado
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  3. Rosana Maria dos Reis
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Correspondence to Rosana Maria dos Reis .

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Editors and Affiliations

  1. ANDROFERT, Andrology & Human Reproduction Clinic, Campinas, São Paulo, Brazil

    Sandro C Esteves

  2. S.H. Ho Urology Centre, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, Hong Kong

    Chak-Lam Cho

  3. Department of Urology, Hamad Medical Corporation, Weill Cornell Medicine Qatar, Doha, Qatar

    Ahmad Majzoub

  4. Department of Urology, Cleveland Clinic, Cleveland, OH, USA

    Ashok Agarwal

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Santana, V.P., Miranda-Furtado, C.L., dos Reis, R.M. (2019). Genetics and Epigenetics of Varicocele Pathophysiology. In: Esteves, S., Cho, CL., Majzoub, A., Agarwal, A. (eds) Varicocele and Male Infertility. Springer, Cham. https://doi.org/10.1007/978-3-319-79102-9_4

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