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Cystic Fibrosis (CF) and Infertility

What is cystic fibrosis?

Cystic fibrosis is an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food.

Symptoms usually start in early childhood and vary from child to child, but the condition gets slowly worse over time, with the lungs and digestive system becoming increasingly damaged.

Treatments are available to help reduce the problems caused by the condition and make it easier to live with, but sadly life expectancy is shortened.

Symptoms of CF:

  1. Breathing problems
  2. Lung infections
  3. Pancreas clogging that leads to the not proper absorption of nutrients from food while the person needs to eat more calories to avoid malnutrition.
  4. Yellowing of the skin and the whites of the eyes
  5. Diarrhea or constipation
  6. Diabetes, osteoporosis and infertility struggles.

Diagnosis:

Newborn children are tested shortly after they are born through the heel prick test. If they are found to have cystic fibrosis they’ll need the below additional tests to confirm they have the condition:

  1. a sweat test – to measure the amount of salt in sweat, which will be abnormally high in someone with cystic fibrosis
  2. a genetic test – where a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis

The above tests are carried out also in adults that may have never been tested when they were children and are afraid they have the faulty gene. Especially if they wish to conceive that those tests are mandatory. 

a purple ribbon and a stethoscope
Purple ribbon for cystic fibrosis awareness

Treatment of CF:

Although there is no cure for the disease, there are some treatments to ease the symptoms and help you live your life a little more smoothly. 

People with cystic fibrosis may need to take different medicines to treat and prevent lung problems.

Physical activity and the use of airway clearance techniques may also be recommended to help clear mucus from the lungs.

Eating well is also important because as we stated before the pancreas may not be functioning well making it even harder to digest. So a dietitian may suggest a high-calorie diet, vitamin and mineral supplements, and taking digestive enzyme capsules with food to help with digestion.

In the extreme case when the lungs aren’t working properly anymore and any other medical treatment doesn’t help, a lung transplant may be recommended. A lung transplant is a serious operation that carries risks, but it can greatly improve the length and quality of life for people with severe cystic fibrosis.

Cystic fibrosis and infertility:

Fertility and the ability to conceive may not be an easy task while having cystic fibrosis, especially if you are a man. Men and women with CF usually produce normal levels of sex hormones such as progesterone, estrogen, and testosterone, and can, therefore, enjoy a normal sex life. However, they often face special challenges when it comes to conceiving. That’s because the genetic mutation that causes the disease results in infertility in almost all males and sometimes makes getting pregnant more difficult for females.

Cystic fibrosis and men:

Let’s talk a bit about biology. The reproductive system of males consists of three primary parts: the testicles, the epididymis, and the vas deferens.

Sperm (the reproductive cells) are developed in the testicles. The epididymis is a series of tubes that sit behind the testicles where sperm are stored until they are made available at ejaculation. The vas deferens is a long tube that connects the epididymis to the ejaculatory ducts and acts as a canal so that mature sperm can come through the penis during ejaculation.

Most men with CF (97 to 98%) are infertile because of an absence of the sperm canal, known as congenital bilateral absence of the vas deferens (CBAVD). The sperm never make it into the semen, making it impossible for them to reach and fertilize an egg through intercourse. The absence of sperm in the semen can also contribute to men with CF having thinner ejaculation and lower semen volume.

Even though the vas deferens is missing, the sperm is not. In fact, sperm production in the testicles is normal in 90% of men with CF and CBAVD, meaning that most men with CF can still have biological children through assisted reproductive technology (ART). 

So, men with CF who want to father children may be able to have their sperm extracted and used to fertilize an egg. There are different procedures used to take sperm. There are:

  1. Microepididymal sperm aspiration (MESA)
  2. Percutaneous epididymal sperm aspiration (PESA)
  3. Testicular sperm extraction (TESE)

After the sperm is collected, it can be used for IVF. You can learn more about IVF in Greece here.

A needle and some cells in a disk
IVF procedure

Cystic fibrosis and women:

Although the disease seems to have no impact on the physical structure of the woman’s reproductive system, it is considered to make a woman less fertile and likely to conceive. 

This is because the mucus that coats the vagina and cervix is thicker than usual, making it more difficult for sperm to travel and fertilize the egg. Some women with CF may ovulate less often if they do not menstruate because of lung, nutrition, or weight problems. However, with good nutrition and lung function, the fertility rates of women with CF come close to those who don’t have the disease.

Assisted reproduction techniques are still the best option for women with CF, techniques such as IVF and insemination. 

Adoption and surrogacy are also options available if you don’t want to perform a fertility treatment. 

The number of women with CF who get pregnant has grown since the 1990s. According to the CF Foundation’s Annual Data Report, 138 females with CF ages 14 to 45 years old reported a pregnancy in 1990. By 2017, that number had roughly doubled to 273 pregnancies.

As science advances, and people nowadays manage to live longer and healthier lives, planning a pregnancy is more and more considered. That is why it is important to consult with a fertility specialist, especially with someone that has treated CF cases before, in order to explain your options and together find out the best plan. 

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