Male Infertility Gene Discovered

The Scoop

Male infertility accounts for up to half of cases in which couples have difficulty conceiving, but in the majority of cases, doctors are unable to pinpoint the exact reason why men have difficulty producing viable sperm. But a study from researchers from the Pasteur Institute in France and University College London could indicate that male infertility is, at its root, a genetic disorder.

Published online September 30, 2010, in the American Journal of Human Genetics, researchers looked for abnormalities in the NR5A1 gene in a group of 315 apparently healthy men who had an unexplained inability to produce sperm. The NR5A1 gene is known to be involved in sexual development in both men and women; defects in NR5A1 have been linked to physical defects in the development of the testicles or ovaries.

According to researchers, 4 percent of men were found to have a gene with a mutation. While the number found is small, researchers are hopeful this find can propel further studies that look for mutations in other genes. "Given the complexity of the sperm production process it is likely that many genes are involved and therefore that many gene defects linked to infertility may be found, comments Dr. Allan Pacey, a senior medical lecturer at the UK's University of Sheffield, in an interview with BBC News.

Your Fertility

What else could be the cause for your man's fertility problems? Certain lifestyle factors—obesity, smoking, medications, and stress—may lead to temporarily low sperm counts or impaired sperm production. Tight underwear, frequent dips in a hot tub, and even too much bicycling may also hamper sperm production. Working with a fertility specialist often helps couples to uncover these hidden fertility impairments.