Skip to main content

Breakthrough Case Study Has Found a Genetic Cause for Male Infertility

Posted in Infertility, News


2 Minute Read:

Male infertility is a big problem around the globe, affecting 40 million couples in the US alone. And although the exact causes of male infertility seem to be more complicated than they should, there’s now hope that the issue might one day be solved.

Magnifying glass over a sperm concept.

Researchers at Newcastle University have taken a new approach to uncovering the genetic cause of male infertility by looking at how sperm cells are affected by certain mutations. They found that defects in sperm function were more common than previously thought, particularly in DNA replication mechanisms that ensure healthy offspring.

In a paper published in Nature Communications, this team of scientists identified new genetic mutations during the replication process. The discovery of the genetic causes behind male infertility is one more step forward in the battle against this global epidemic.

Does This Mean That Infertility in Men Is Hereditary?

During the research, this group studied infertile men, and they identified 29 of 145 rare mutations in genes that affect the reproductive processes. RBM5 — a mutated gene — was in the spotlight for being present in several participants. Previously, animal studies have linked RBM5 to male infertility.

Further studies also indicated that pre-mRNA, an unmutated version of the RBM5, also played a role in the splicing of male germ cells.

Although many babies have been born through assisted reproductive approaches, it’s possible that a number of these children may inherit infertility from their fathers. This means that men with mutations from their fathers have a 50 percent chance of passing down their infertility to their sons.

What Else Causes Infertility in Men?

There are a number of possible causes of infertility in men, including hormonal imbalances, problems with sperm production, lifestyle choices, and genetic issues. However, there is no single definitive cause. Doctors believe that the symptoms of infertility in men are caused by a combination of factors, and each person’s situation is unique.

How Do I Know I am Infertile as a Man?

There are no clear-cut answers to this question. The best way to find out if there is a concern is to undergo a fertility evaluation with a reproductive specialist.

Testing for infertility is often not straightforward. Doctors will use a battery of tests to look for infections, blockages, and hormone imbalances. In some cases, however, they won’t find any problems. In these cases, they may recommend genetic testing.

When a man does have fertility concerns, it’s important to see a doctor for an evaluation before tackling the issue on your own. It’s best not to take matters into your own hands without first consulting with a physician who can determine whether you’re at risk for other conditions that can cause infertility.
Fortunately, treatment and alternative options are possible.