In the most severe form of male infertility, men do not make any measurable levels of sperm. This condition, called azoospermia, affects approximately 1 percent of the male population and is responsible for about a sixth of cases of male infertility.
Oftentimes men with azoospermia don’t know the underlying cause of their condition. But new research led by University of Pennsylvania scientists suggests that mutations in an X chromosome gene called TEX11 are responsible for a significant number of cases of infertility—an estimated 1 percent of cases of non-obstructive azoospermia.
Tag: azoospermia
New Gene Linked to Male Infertility
Mutations in TEX11 were found in 2.4% of infertile men with non-obstructive azoospermia without another known cause. Azoospermia refers to the absence of sperm cells in the semen. This may be due to an obstruction, or an inability to produce mature sperm cells (non-obstructive azoospermia). While some chromosomal abnormalities have been associated with subtypes of non-obstructive azoopermia, the genetic basis of the majority of patients affected is not fully understood.
One for the Guys: That Azoospermic Feeling
At the beginning of the office visit, I like to ask men with no sperm in the ejaculate who are unable to conceive a simple question: “What crossed your mind when you first heard that you were azoospermic?” The answers varying greatly but are very telling:
- “It must be a mistake.”
- “I shouldn’t have joined that fraternity in college…”
- “It wasn’t the best sample I’ve ever done.”
- “I was simply and utterly devastated.”
- “I was in shock and then got really depressed.”
- “It changed my life…I always thought that I would be a father.”
The Meaning of Azoospermia
Azoospermia is the lack of sperm in the ejaculate. It can be due to a blockage in the system (obstruction) or failure of the testicles to make sperm (nonobstructive). The most common reason for blockage is a vasectomy. Other causes include infections, prior surgery, injury or congenital absence of certain reproductive tract organs. Failure to make sperm can be due to exposures (hot tubs), medications, varicocele, a history of undescended testicles, cancer and cancer treatment. However the largest chunk of men with poor sperm production have none of these issues. Instead, they have a subtle genetic cause: either they are missing genes on the Y chromosome or have other chromosomes harboring subtle alterations that do not otherwise affect their health or lives.
So, like Captain Renault in the movie “Casablanca,” most men with azoospermia are “shocked, shocked!” because they feel so normal in every other way. And the vast majority are normal (as normal as men can get) in every other way. Most of the things they worry about, like college indiscretions, are exposures that are entirely reversible with time. My response is usually to allay fear and guilt by saying: “This is not something that you have done to yourself; let’s see if we can do something about it at this point.”
Treating Azoospermia
In fact there is a whole lot that we can do with azoospermia. Men with blockages can often be unblocked with microsurgery, one of my favorite things to do. This gives them the chance to conceive naturally again. And most men with poor production as a cause of azoospermia will have pockets of sperm in the testicles that can be identified by techniques like sperm mapping and that can be used for high-technology pregnancies.
What I have learned after caring for hundreds of azoospermic men over two decades is that they really don’t care what their sperm counts are as long as they can be fathers. And once they are fathers, it is clear that that “azoospermic feeling” goes away, as it should.
Dr. Paul Turek is founder of The Turek Clinic in San Francisco, a former professor and Endowed Chair at the University of California San Francisco, and a pioneer in innovative techniques for treating male infertilty. He was recently the recipient of a National Institutes of Health (NIH) grant for research designed to help infertile men become fathers. Check out Dr. Turek’s weekly blog on about common medical issues, solutions, and innovations at TurekOnMensHealth.com, where this blog post originally appeared.