A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Abstract

Background: The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations.

Results: Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies.

Conclusion: Male Infertility is a complex and multifactorial disorder.

Significance: This review provides a comprehensive, up-to-date evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

Fig. 1

Common genetic, molecular and epigenetic factors contributing to the development, and the diagnostic and preventive measures to treat male infertility

Fig. 2

A schematic picture of Y chromosome displaying AZF regions (AZFa-c) and associated genes. Enlarged portion of AZFc region illustrates the discussed microdeletions. (a) Normal AZFc region, (b) gr/gr deletion, (c) b1/b3 deletion, and (d) b2/b3 deletion