Genetic Causes and Management of Male Infertility

Posted On 2021-04-23 17:42:13

Taking 13 years to complete, the Human Genome Project sequenced the entire euchromatic human genome. The accomplishment was hoped to offer solutions to many of man’s most befuddling medical conditions, male infertility a prime example. What was discovered, however, was the tip of the iceberg. The sequence of base pairs only begins to shed light on the complex interplay between pre-translational, translational, and related factors that determine fertility potential.

This focused series of Translational Andrology and Urology explores our current understanding of the genetic causes and management of male infertility. Beginning with reviews of the basic genetic etiologies and relevant tests, this series then delves into well-known causes of male infertility including Y chromosome copy number variations, Y chromosome microdeletions, cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations, and hypogonadotropic hypogonadism. A novel review collates the available literature on nutrigenomics, detailing the interplay between diet, genetic makeup, and fecundity.

Unraveling the mystery of genetics and male infertility
Keith A. Jarvi, Jared M. Bieniek

Review article
Genetic testing for men with infertility: techniques and indications
Daniel L. Pelzman, Kathleen Hwang

Genetic causes and management of male infertility
Gavin D. Stormont, Christopher M. Deibert

Y chromosome copy number variation and its effects on fertility and other health factors: a review
Marc J. Rogers

Y-microdeletions: a review of the genetic basis for this common cause of male infertility
Luke Witherspoon, Ali Dergham, Ryan Flannigan

Genetics of CFTR and male infertility
Jared M. Bieniek, Craig D. Lapin, Keith A. Jarvi

Genetics of hypogonadotropic hypogonadism
Adam C. Millar, Hanna Faghfoury, Jared M. Bieniek

Nutrition, genetic variation and male fertility
Shelley M. Vanderhout, Matineh Rastegar Panah, Bibiana Garcia-Bailo, Patricia Grace-Farfaglia, Konrad Samsel, Judith Dockray, Keith Jarvi, Ahmed El-Sohemy

At what age should we attempt to retrieve sperm from males with Klinefelter syndrome
Shanta Shepherd, Robert Oates

Histology and sperm retrieval among men with Y chromosome microdeletions
Wallace Yuen, Andrew P. Golin, Ryan Flannigan, Peter N. Schlegel

The effects of Y chromosome microdeletions on in vitro fertilization outcomes, health abnormalities in offspring and recurrent pregnancy loss
Andrew P. Golin, Wallace Yuen, Ryan Flannigan

How do we counsel men with obstructive azoospermia due to CF mutations?—a review of treatment options and outcomes
Jesse B. Persily, Varun Vijay, Bobby B. Najari

Genetic counselling for infertile men of known and unknown etiology
Riyana Babul-Hirji, Ruqayya Hirji, David Chitayat

Defining new genetic etiologies of male infertility: progress and future prospects
Albert Salas-Huetos, Kenneth I. Aston

The focused issue “Genetic Causes and Management of Male Infertility” was commissioned by the editorial office, Translational Andrology and Urology without any sponsorship or funding. Keith Jarvi and Jared Bieniek are are serving as the unpaid Guest Editors for the focused issue.