Abstract

A COMPREHENSIVE REVIEW ON THE ROLE OF GENETIC TESTING IN MALE INFERTILITY

Muskaan Jasraj, Shivani, Rishitha Ghanta, Kevin Vinod, Saurabh Tewari, Diksha Kaushik, Komal Uppal and Sunil Kumar Polipalli*

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Abstract

According to the World Health Organisation (WHO) globally 1 in 6 people is affected by infertility making it a health challenge worldwide. Figuring out the exact number of males affected by infertility around the globe has yet to be discovered due to a lack of data and underreporting. However, the available statistics likely based on global data show that the male factor accounts for 50% of infertility cases. Major causes are chromosomal aneuploidies, Y chromosome microdeletions, and genetic mutations such as CFTR and CATSPER2 gene mutation. These errors in the genome can affect the process of spermatogenesis resulting in abnormal sperm production. Hence, diagnosing these conditions for the disease's exact cause and clinical management becomes necessary. This review deals with the significance of biochemical, metabolomics, cytogenetics and molecular analysis including next-generation sequencing (NGS) and competitive microarray analysis for diagnosing male infertility. These comprehensive analytical techniques enable us to identify a lot many potential genetic variants, markers, imbalances, factors and faulty gene expression patterns associated with male infertility.

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