Male Infertility Study: Linked to a Faulty Gene?

Nothing is more frustrating for a couple that wants a child than being unable to conceive. Oftentimes an inability to conceive is a simple and easily reversed problem, but unfortunately sometimes it isn't so easily fixed. Infertility is the inability to conceive after at least a year of actively trying. In a third of infertility cases, the cause can be linked to the male. Male infertility can have several causes: a low sperm count, damage from past sexually transmitted diseases, testicles that are not descended, prostate gland abnormalities in addition to other problems. Sometimes after certain tests have been performed in order to pinpoint the cause of male infertility, including a physical examination, blood tests, semen analysis, etc, no problem can be found. This is usually when a fertility specialist will recommend genetic testing, since it has been found that men can sometimes carry a certain gene that makes them more prone to be infertile.

Mutations in the NR5A1 gene has been proven to be linked to male infertility. The function of this gene plays a critical role in sexual development and maturation and can lead to infertility. This discovery was made following a recent study involving infertility in men, which was performed by researchers at a lab in Institut des Maladies Rares, a government-funded French medical institute. This faulty gene has the ability to cause physical abnormalities in the testicles, resulting in future infertility. These physical abnormalities can lead to low levels of the hormones necessary for sexual arousal as well as reproduction.

Usually in cases where low sperm count is found to be related to some type of reversible obstruction, sperm count can often return to normal, restoring fertility in men. However, in the cases where men suffer from unexplained low levels of sperm, the problem is sometimes unexplained, which is what prompted this particular study. As many as 7 out of every 315 men with low sperm counts were discovered to have this faulty gene. In some men, the NR5A1 gene has the ability to cause even more severe physical and functional abnormalities of the genitals, further affecting fertility.

Future studies will be necessary in order to possibly develop a treatment for infertility caused by this faulty gene. These studies will require the participation of larger groups of men in order to find out more useful information as well as assist these men, since the initial study only included a small amount of men (just over 300). Such a small group of men in the initial study only gave researchers clue regarding this mutated gene, but obviously so much more information is needed. Future studies will also hopefully answer unanswered questions such as how many men are actually affected by this mutated gene as well as how many men with the mutated gene have not experienced difficulty with fertility.

References

Journal of Andrology, Male Infertility - http://www.andrologyjournal.org/cgi/content/full/24/4/485

Medline Plus Male Infertility Information - http://www.nlm.nih.gov/medlineplus/infertility.html

NHS Choices, Male Infertility Study - http://www.nhs.uk/news/2010/09September/Pages/male-infertility-gene.aspx

Press TV Male Infertility Study - http://www.presstv.ir/detail/144889.html