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Genetic Testing for Men with Infertility: Techniques and Indications

August 23, 2021

A study recently published in the journal Translational Andrology and Urology to discuss the indications, rationale, and methodology of genetic testing for men was conducted by two urology experts, including Director of Male Reproductive Health at the UPMC Men’s Health Center, Kathleen Y. Hwang, MD.

Genetic testing is an integral component in the workup of male infertility as genetic conditions may be responsible for up to 15% of all cases.

Currently, three genetic tests are commonly performed and recommended by major urologic associations: karyotype analysis (KA), Y-chromosome microdeletion testing, and CFTR mutation testing.

Research concluded that KA, Y-chromosome microdeletion testing, and CFTR mutation testing clearly benefit a subpopulation of infertile men by providing clearer prognoses and treatment options for future fertility.

Despite widespread adoption of these tests, an etiology for infertility remains elusive in up to 80% of cases, indicating that continued research must be performed. Recent work has identified intriguing new targets for genetic testing which may soon see clinical relevance. Newer technologies and techniques, such as epigenetics and genomic microarrays, have shown some promise in improving diagnosis, and possible treatment, of infertility.

Read more about this study on PubMed.

Other study author includes Daniel L. Pelzman.