Mukoviszidose und männliche Fruchtbarkeit

Cystic Fibrosis is a condition that affects around 100,000 people around the world – and 50% of those are men. The condition has far reaching effects on the health and lifestyle of people who suffer from it – but can it affect your fertility?

What is Cystic Fibrosis?

Cystic Fibrosis (sometimes known as CF) is a medical condition which results in severe damage to the lungs as well as impacting the digestive system and other organs in the body. The disorder affects the production of mucus, sweat and digestive juices in the stomach.

For people without CF, these fluids are usually thin and slippery. However, those with cystic fibrosis have a defective gene that causes these fluids to become thick and sticky. This causes a build up of mucus in the lungs and in the pancreas, and means that tubes, ducts and passageways become clogged up. This makes it hard for them to breathe and also impacts other bodily functions.

Respiratory issues are caused by a buildup of mucus on the lungs, and people with CF often find that they have shortness of breath and struggle with recurrent chest infections. People with CF also often have various digestive issues – this is because mucus also clogs the pancreas stopping enzymes needed for proper digestion from reaching the gut.

People with CF sadly have a lower life expectancy, however thanks to medical advancements they are living longer and some manage to lead relatively normal lives – although they do require daily care and regular care and medical interventions.

Is Cystic Fibrosis hereditary?

Cystic Fibrosis is a hereditary disorder, caused by a defective gene that affects the way salt and water move in and out of cells. You cannot ‘catch’ cystic fibrosis, but instead are born with the condition, if both parents are carriers of the faulty gene.

It’s estimated that 1 in 25 people in the UK are carriers of the recessive CF gene. That doesn’t necessarily mean that a parent will have Cystic Fibrosis themselves.

If both parents are carriers, there’s a:

• A 50% chance the child will inherit a faulty gene from one parent and become a carrier of the gene
• A 25% chance the child won’t inherit any faulty genes and won’t have cystic fibrosis or be able to pass it on
• A 25% chance the child will inherit the faulty gene from both parents and have cystic fibrosis themselves

If one parent has cystic fibrosis and the other is a carrier, there’s a:

• 50% chance the child will be a carrier of the faulty gene but won’t have the condition
• 50% chance the child will have cystic fibrosis

Does Cystic Fibrosis impact fertility in women?

Generally speaking, women with CF are still fertile and the vast majority are able to conceive naturally with 12 months of trying. However, there are a couple of side effects of the condition that can make it a little harder.

Firstly, their cervical mucus is often thicker than the mucus of someone who doesn’t have the condition. Cervical mucus plays an important role in helping sperm cells swim towards the egg, and when it is thick and sticky it can make it more difficult for them to get there!

The digestive issues associated with CF can also cause issues with ovulation, and some women with CF notice that they have irregular menstrual cycles.

Whilst these two factors can contribute to a more difficult TTC journey it is still definitely possible to get pregnant and give birth to a healthy baby if you have Cystic Fibrosis. Yoru medical team and fertility specialists will be able to advise you on the best plan of action if you are struggling.

Does Cystic Fibrosis impact fertility in men?

Unfortunately for men, the issues around Cystic Fibrosis and fertility are more complex. Over 97% of men with Cystic Fibrosis are classed as infertile – although 90% of them can produce healthy sperm. So what is causing the fertility issues?

Infertility in men with cystic fibrosis is almost always attributed to a lack of a vital part of the male reproductive system – the Vas Deferens. The Vas Deferens is a long canal connecting the epididymis (a coiled tube that stores sperm after it’s produced in the testicles) into the pelvic cavity. The role of the Vas Deferens is to transport mature sperm calls from the epididymis into the urethra ready for ejaculation.

If you don’t have a Vas Deferens, you will likely have a condition known as congenital bilateral absence of the vas deferens (CBAVD). This is extremely common in men with Cystic Fibrosis. If you have CBAVD, then even if you are producing healthy sperm, there is no way for them to make it into your ejaculate, which means there will be no sperm cells in your semen sample (and no sperm cells able to fertilise an egg during sex).

Fertility treatment options for men with Cystic Fibrosis

Having no sperm cells in your semen is obviously going to make a fertility journey more difficult. But the good news is that if you are producing healthy sperm cells, it is possible to have biological children of your own – you just will need a helping hand.

Surgical sperm extraction can remove sperm cells from the testicles or epididymus and these sperm can be used in assisted fertility treatments such as ICSI and IVF.

There are various surgical options for extracting sperm cells including.

MESA – Microsurgical Epididymal Sperm Aspiration. Surgery done under general anaesthetic to remove sperm cells directly from the epididymis.
PESA – Percutaneous Epididymal Sperm Aspiration – similar to MESA but less complicated and less expensive, a needle is used to extract the sperm so it can be done under local anaesthetic.
TESE – Testicular Sperm Extraction – Surgery where tissues is taken directly from the testicles and sperm cells extracted.
TESA – Testicular Sperm Aspiration – Similar to TESE but is done using a needle so is less intrusive and can be done with local anaesthetic.

If healthy sperm cells are found during any of the above procedures, then they can be used in fertility treatments and you are one step closer to building your family.

What if I’m a carrier of CF genes? Will this affect my fertility?

If you are a carrier of the mutated gene that causes Cystic Fibrosis, there is a chance your fertility could be affected – even if you have no other symptoms of the condition. Forschung has indicated that men with the condition Azoospermia (no sperm cells in their semen) are twice as likely to be carriers of the mutated CF gene. Some men who carry this recessive gene may also have CBAVD (no Vas Deferens).

Therefore, if you discover you have Azoospermia, it’s advisable to get screened for the CF gene. Likewise, if you discover you are a carrier of the CF gene, you should definitely look into getting your sperm tested. Many people show no outward signs of Azoospermia and only discover they have no sperm in their ejeculate once they start trying for s baby.

If you want to take a proactive approach to your health and fertility, our at-home sperm test can help. Learn more about our men’s fertility test and find out your Total Motile Sperm Count.