Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 Feb;53(1):e13586.
doi: 10.1111/and.13586. Epub 2020 Apr 21.

Role of genetics and epigenetics in male infertility

Sezgin Gunes  1   2 , Sandro C Esteves  3   4   5
Affiliations
Review

Role of genetics and epigenetics in male infertility

Sezgin Gunes et al. Andrologia. 2021 Feb.

Abstract

Male infertility is a complex condition with a strong genetic and epigenetic background. This review discusses the importance of genetic and epigenetic factors in the pathophysiology of male infertility. The interplay between thousands of genes, the epigenetic control of gene expression, and environmental and lifestyle factors, which influence genetic and epigenetic variants, determines the resulting male infertility phenotype. Currently, karyotyping, Y-chromosome microdeletion screening and CFTR gene mutation tests are routinely performed to investigate a possible genetic aetiology in patients with azoospermia and severe oligozoospermia. However, current testing is limited in its ability to identify a variety of genetic and epigenetic conditions that might be implicated in both idiopathic and unexplained infertility. Several epimutations of imprinting genes and developmental genes have been postulated to be candidate markers for male infertility. As such, development of novel diagnostic panels is essential to change the current landscape with regard to prevention, diagnosis and management. Understanding the underlying genetic mechanisms related to the pathophysiology of male infertility, and the impact of environmental exposures and lifestyle factors on gene expression might aid clinicians in developing individualised treatment strategies.

Keywords: epigenetics; epigenome; genetics; genome; male infertility.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

REFERENCES

    1. Abur, U., Gunes, S., Asci, R., Altundag, E., Akar, O. S., Ayas, B., … Ogur, G. (2019). Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions. Andrologia, 51, e13402.
    1. Adelman, C. A., & Petrini, J. H. (2008). ZIP4H (TEX11) deficiency in the mouse impairs meiotic double strand break repair and the regulation of crossing over. PLoS Genetics, 4, e1000042.
    1. Agarwal, A., Majzoub, A., Esteves, S. C., Ko, E., Ramasamy, R., & Zini, A. (2016). Clinical utility of sperm DNA fragmentation testing: Practice recommendations based on clinical scenarios. Translational Andrology and Urology, 5, 935-950.
    1. Agarwal, A., Mulgund, A., Hamada, A., & Chyatte, M. R. (2015). A unique view on male infertility around the globe. Reproductive Biology and Endocrinology, 13, 37.
    1. Aksglaede, L., & Juul, A. (2013). Testicular function and fertility in men with Klinefelter syndrome: A review. European Journal of Endocrinology, 168, R67-76.