Genetic Causes of Male Infertility

Getting pregnant is a very complex process. On the surface, it may seem very simple, but a lot of things have to be on the right track at the right time for you to conceive. A lot is talked and written about infertility in women, while very little is discussed about male factor infertility. The fact is that increasingly men are emerging as the “problem” when it comes to a couple not being able to conceive.

Male factor infertility is essentially diagnosed whenever there are problems with the man’s sperm or even his ability to actually deliver the sperm into his female partner’s uterus. Today, we find male factor infertility in almost 50% of the couples who come to our clinic to seek treatment. Though there are a range of reasons that can lead to male infertility, certain genetic defects can cause the man’s sperm to be abnormal.

One big problem is that genetic testing is now being misused for the infertile man. It should only be done for azoospermic men – those with a zero sperm count. However, we find that lots of doctors do this for all infertile men, which is a complete waste of time and money. Even worse, they use unreliable test such as sperm DNA integrity testing and DNA FISH testing, and when these are abnormal, they tell the patient that this is the reason they IVF cycle failed, and they then advice them to use donor sperm.

Genetic testing should be used selectively, and only for men whose sperm count is zero ( this is called azoospermia), Even for these men, it should be used wisely and selectively.


These are some of the common genetic causes of infertility in men:

• Klinefelter Syndrome- This occurs when the man has an extra X-chromosome. This gives him XXY sex chromosomes versus the normal XY ones. This genetic problem is fairly common and it occurs in 1 out of every 500-1000 men. People who have this syndrome may have very low sperm count or no sperm in their semen at all.

Their testosterone levels will also be lower than normal. In some instances, men with Klinefelter syndrome might have sperm in their testicles. We are able to extract this and use them to fertilize the female partner’s eggs in our lab via a procedure called ICSI (intracytoplasmic sperm injection).

• Cystic Fibrosis Gene Mutation- Men who have cystic fibrosis don’t generally have a vas deferens (this is the tube that carries the sperm from the testicles into the urethra). If we find that the man has this condition, we then recommend that the woman be tested to check whether she carries a cystic fibrosis mutation; this helps us identify whether their child will be at risk.  Most of the men who have this condition are able to produce sperm naturally. This makes it possible to extract sperm and use ICSI to fertilize the woman’s eggs in our lab.

• Y Chromosome Micro deletions- In some cases, segments of the Y chromosome, that relate to male fertility may be missing, which can lead to male factor infertility. We use certain tests to determine whether it will be possible to find sperm in the man’s testicles. If a man with this particular condition has male children (either via ART or naturally), they will also have this genetic condition. Female children  don’t get affected as they don’t have the Y-chromosome at all

• Other Chromosomal Problems- It’s possible to find certain other genetic abnormalities using genetic testing. In some cases of repeated miscarriages & unexplained infertility, one of the partners will be identified to have chromosome rearrangements- these are referred to as balanced relocations. If these are identified, we may recommend IVF with PGD (preimplantation genetic diagnosis). We may use this particular testing when either one or both the partners are carriers of a chromosomal abnormality/ have a history of genetic disorders.

PGS (preimplantation genetic screening) is a related procedure that doesn’t look for any specific diseases; however it uses the techniques used in PGD to look for embryos that may have an abnormal number of chromosomes.  Regardless of which procedure is used, your eggs will be fertilized in our lab, with your partner’s sperm.  We will also genetically test the embryos before we transfer them into your uterus. Using this procedure, we are able to choose the embryos that are unaffected by any chromosomal abnormalities and transfer only the healthy ones.

If genetic issues are found in the male partner, we may recommend genetic counseling; this helps the couple determine whether they will be able to have children with the man’s sperm and which alternatives are open to them. Some of our patients opt for donor sperm. This can be a difficult decision to make and we ensure that our patients are counseled well; it helps them make a more well-informed and prudent decision.

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