Episode 4: Genetic Causes of Azoospermia

Sometimes you can just blame your parents. Underlying genetic conditions account for roughly 30% of the causes of azoospermia. In our ongoing series on Azoospermia with Dr. Werthman, we talked through some of the major genetic conditions that can lead to azoospermia as well as more detailed description of the various testicular sperm extraction techniques that are currently used to help men with genetically caused azoospermia become fathers.

The Causes

As we talked about in our last post, there are two types of azoospermia: obstructive and non-obstructive. Obstructive azoospermia means that your sperm are ready to party, but a bouncer is blocking the entrance. Non-obstructive azoospermia is a little more complicated. Think of it as your sperm not even giving an RSVP to the party. Non-obstructive azoospermia is often the result of three main genetic causes: gene deletion, carrier type issues, or Klinfelter’s Disease.

  1. Gene Deletion: There is a deletion, also called a mutation, on the “Y” chromosome on one of the genes that causes or controls sperm production.
  2. Translocation: A translocation involves caryotype or chromonsomal compliment. With translocation, part of one chromosome breaks off and switches with another, leading to problems producing sperm.
  3. Klinefelter’s Disease: A man is born with an extra “X” chromosome. The extra chromosome causes a dysfunction in the testicles, which means that the testicles cannot work as well to produce sperm.

Klinefelter’s is very common, affecting 1 in 400 males babies born, yet it is not usually diagnosed until puberty because a caryotype test is needed to diagnose it. Outward symptoms of Klinefelter’s include a tall build, less body hair, small testicles that are around the size of grapes, and enlarged breast tissue. There is a silver lining,though, as nearly half of the men diagnosed with Klinefelter’s are producing some sperm.

The Good News

While there is no quick fix for these genetic issues, there is still a possibility for men with non-obstructive azoospermia to become biological fathers. Men trying to conceive with possible genetic conditions should undergo blood tests to gauge the possibilities of having sperm in their testicles. These tests can also help to decipher whether or not your future child will be affected by these genetic issues. If the possibility of healthy sperm within the testicles is discovered, a surgical microextraction can be performed.

The Procedure

The surgical microextraction is a procedure that would not have been possible 30 years ago. It involves opening the testicle and using a very powerful microscope to find the seminiferous tubules, which may be producing sperm. A very small sample from these tubules that looks likely to contain sperm is then removed. The goal of the sample to be as small and jam-packed with sperm as possible, to prevent any possible damage to the testicles that could be caused by a larger sample. This procedure has a 60-70% success rate of finding sperm in cases of non-obstructive azoospermia. The sperm found during this procedure can then be used in IVF cycles.

Finding a Doctor

Microextraction is a procedure that requires a highly skilled, experienced specialist. There’s no GPS for your sperm. You want a doctor who is going to know what he is looking for and where to look for it.

Don’t Cook Your Balls has you covered. Check out our Find a Doctor page for Male Fertility Rock Stars sorted by state.

What We Learned

Guys, even if you have been diagnosed with a genetic issue, you still have options. So go get genetically tested to see if microextraction is an option for you.

Watch our full interview with Dr. Werthman on Genetic Causes of Azoospermia


Sara SDx

Sara SDx

Editor of Don't Cook your Balls, Co-Founder of TrakFertility.com, Health Coach and Men's Health Advocate. Passionate about sperm, men's health and helping people build their families.
Sara SDx

Author: Sara SDx

Editor of Don't Cook your Balls, Co-Founder of TrakFertility.com, Health Coach and Men's Health Advocate. Passionate about sperm, men's health and helping people build their families.