Where are we going with gene screening for male infertility?

We review the available genetic and genomic tests used to diagnose male infertility and discuss the future technologies on the horizon.
Where are we going with gene screening for male infertility?

Volume 111, Issue 5, Pages 842–850


Nannan Thirumavalavan, M.D., J. Scott Gabrielsen, M.D., Ph.D., Dolores J. Lamb, Ph.D., H.C.L.D.


Male infertility is a heterogenous disease process requiring the proper functioning and interaction of thousands of genes. Given the number of genes involved, it is thought that genetic causes contribute to most cases of infertility. Identifying these causes, however, is challenging. Infertility is associated with negative health outcomes, such as cancer, highlighting the need to further understand the genetic underpinnings of this condition. This paper describes the genetic and genomic tests currently available to identify the etiology of male infertility and then will discuss emerging technologies that may facilitate diagnosis and treatment of in the future.

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