Genetic Testing for Men With Infertility

Techniques and Indications

Daniel L. Pelzman; Kathleen Hwang


Transl Androl Urol. 2021;10(3):1354-1364. 

In This Article

Abstract and Introduction


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. Despite widespread adoption of these tests, an etiology for infertility remains elusive in up to 80% of cases. Recent work has identified intriguing new targets for genetic testing which may soon see clinical relevance. This review will discuss the indications and techniques for currently offered genetic tests and briefly explore ongoing research directions within this field.


Infertility, commonly defined as inability to achieve pregnancy despite 1 year of unprotected intercourse, affects nearly 15% of couples,[1] and a male factor contributes in up to 50% of these couples.[2] The etiology of male infertility can be broadly divided into four major categories: hypothalamic-pituitary axis dysfunction, quantitative spermatogenic defects, qualitative spermatogenic defects, and ductal obstruction or dysfunction.[3] Known genetic anomalies underlie ~15% of male infertility cases[4] and can cause abnormalities within any of these four etiologic categories. With significant advancement in our understanding of genetics came a concordant rise in the medical applications of genetic testing. Many of these tests now comprise essential components of the male infertility workup. This review will provide an overview of common genetic tests used for male infertility and the indications for each of these tests.