Genetics and Epigenetics of Varicocele Pathophysiology

  • Viviane Paiva Santana
  • Cristiana Libardi Miranda-Furtado
  • Rosana Maria dos ReisEmail author


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.


Genetics Epigenetics Genome Transcriptome Chromosome Polymorphism Mutation Methylation 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Viviane Paiva Santana
    • 1
  • Cristiana Libardi Miranda-Furtado
    • 1
  • Rosana Maria dos Reis
    • 1
    Email author
  1. 1.Department of Gynecology and ObstetricsRibeirao Preto Medical School of University of Sao Paulo (USP)Ribeirao PretoBrazil

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