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Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.
Male infertility is more common than many realize. In one third of the cases the cause of male infertility is unknown, but in addition to physiological factors, both the lifestyle and genetics play a role. Male infertility is a condition that affects many couples trying to conceive. It occurs when a man has difficulty conceiving a child due to problems with sperm production, or function. While various factors contribute to infertility, genetics has an important role in sperm production and function.
Research suggests that rare genetic disorders are responsible for approximately 2% to 8% of male infertility cases. Understanding these and other genetic factors may help guide diagnosis, treatment, and reproductive options.
Our body functions like a well-coordinated system, with every part playing a specific role, including the reproductive system. Just as our gene variants determine traits like height, eye color, and hair type, they also control how a man’s reproductive system develops and functions. Genes regulate everything from hormone production to testicular growth and the complex process of making sperm, known as spermatogenesis. When these genetic instructions are correct, the body produces plenty of healthy sperm that can successfully fertilize an egg.
However, when there are genetic mutations or other abnormalities, this natural process may be disrupted, leading to infertility. Common genetic variations and rare genetic conditions may affect fertility in two main ways:
Disrupting Sperm Production – Some conditions interfere with spermatogenesis, leading to low sperm count, poor sperm quality, or even a complete lack of sperm.
Causing Structural Issues – Certain genetic mutations result in missing or malformed reproductive structures, preventing sperm from reaching the egg.
Here are some common conditions that can impact male fertility and may have a genetic basis :
Azoospermia is a condition in which a man has no measurable sperm in his semen, making natural conception difficult. This can happen for two main reasons:
Because azoospermia can sometimes be linked to genetic abnormalities, genetic testing is an important part of the diagnosis. While this condition significantly reduces fertility, treatments like sperm retrieval procedures, in vitro fertilization (IVF), and intracytoplasmic sperm injection (ICSI) offer some men the chance to conceive biological children. Consulting a fertility specialist may help determine the best options for treatment.
Oligospermia is a condition where a man has a lower-than-normal sperm count in his semen. In mild cases, natural conception may still be possible, but more severe cases can make pregnancy difficult without medical assistance. This condition can be caused by various factors, including genetic causes, infections, or hormonal imbalances.Â
Malformed sperm are sperm cells with abnormal shapes or structures that reduce their ability to fertilize an egg. Common abnormalities include multiple tails, misshapen heads, or poor movement, all of which make it harder for sperm to reach and penetrate the egg. When a man has a high percentage of malformed sperm, natural conception becomes difficult. In such cases, assisted reproductive techniques like intracytoplasmic sperm injection (ICSI) can help by selecting a healthy sperm and injecting it directly into the egg, increasing the chances of successful fertilization.
What Are the Major Genetic Causes of Male Infertility?
Several rare genetic conditions contribute to male infertility. The most common among those are listed below:
The Y chromosome carries essential genes for sperm production, and microdeletions in certain regions can remove important genetic material, leading to infertility. One key area affected is the Azoospermia Factor (AZF) region, where deletions can significantly reduce sperm count and quality.Â
Since these deletions are passed from father to son, genetic counseling is recommended for affected men. While there is no cure, assisted reproductive technologies (ART) like intracytoplasmic sperm injection (ICSI) may help these men conceive biological children.
Klinefelter syndrome is a condition where a boy is born with an extra X chromosome, so he has two X chromosomes and one Y chromosome instead of just one X and one Y. This happens in about 1 out of 1,000 boys and can make it hard for them to have children when they grow up. Boys with Klinefelter syndrome might have smaller testicles, not enough hair on their face or body, and sometimes they have trouble with things like talking or learning. While it’s hard for them to have kids in the usual way, doctors can sometimes help by taking sperm directly from the testicles and using special treatments to help them become fathers.
Cystic fibrosis (CF) is a serious condition that mainly affects the lungs and stomach, but it can also cause problems with having children. In men with CF, a gene called CFTR is changed, which can cause them to be born without the tubes that carry sperm (called the vas deferens). This means sperm can’t travel the normal way.Â
Most men with CF have this problem, and some who carry the CF gene might have other issues that can lower their sperm count or stop sperm from being able to leave their body. Even though sperm can’t travel the normal way, special methods like sperm extraction with IVF and ICSI may help men with CF have children.
A chromosomal translocation happens when the genetic material from one chromosome gets rearranged or moved to another chromosome. There are two main types:
Both types of translocations can sometimes lead to fertility problems, as they can affect the way sperm is made.
Studies on infertile men in Qatar revealed that chromosomal abnormalities were found in 9.59% of cases. The study reported that 10.8% of men with azoospermia and 7.5% of men with oligozoospermia had chromosomal abnormalities. Furthermore, men with chromosomal abnormalities had significantly lower sperm retrieval rates and lower ICSI success rates compared to men with idiopathic infertility. Genetic counseling can help assess reproductive risks, and ART may provide a solution for affected individuals.
Noonan syndrome is a rare genetic disorder caused by mutations in multiple genes, affecting physical and reproductive development. The condition is often diagnosed at birth and is associated with:
Infertility in men with Noonan syndrome is linked to cryptorchidism (undescended testicles), which occurs in 60%-75% of affected males. If left untreated, undescended testicles may impair sperm development, leading to infertility. Some men with Noonan syndrome who did not experience cryptorchidism may still have reduced fertility.
Genetic male infertility is diagnosed through a series of steps:
Genetic male infertility cannot be cured, but assisted reproductive technologies (ART) may provide alternatives for fatherhood. Here are some treatment options for male infertility:
While genetic infertility can’t be entirely prevented, early diagnosis, healthy lifestyle and interventions may improve reproductive options. Steps that may help include:
Genetic disorders are a common but often overlooked cause of male infertility. While the conditions listed above can’t be cured, genetic testing, fertility treatments, and counseling may help men become fathers.Â
