Cystic fibrosis and its effect on fertility in men and women

Cystic fibrosis (CF) is a disease in which the body produces thick mucus that causes breathing and digestive problems and makes the body vulnerable to bacterial infections. It is a hereditary condition. People with cystic fibrosis inherit two sets of chromosomes from the nonworking CF gene, one from each parent. At most one copy of the nonfunctional gene must be present in both parents.

Men and women with cystic fibrosis (CF) produce normal levels of sex hormones such as progesterone, estrogen, and testosterone, and therefore can enjoy a normal sex life. Since May is Cystic Fibrosis Awareness Month, we reached out to Dr. Gunjan SabherwalFertility Expert at Nova Southend IVF and Fertility, and asked her to share information about cystic fibrosis, its symptoms, how we can diagnose it, its relationship to fertility, and what is involved in the treatment process. Read on to find out everything he shared!

What is cystic fibrosis?

Cystic fibrosis is a complicated condition. It is the most common autosomal receptive disorder among Caucasians. More than 95% of men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD) and oligospermia. The condition in women is associated with delayed puberty, amenorrhea, and reduced fertility. CFTR mutations may also be associated with congenital absence of a uterus and vagina. Reactions and their severity can vary greatly from person to person. Many factors, including your age once diagnosed, can influence your health and the course of the condition.


Diagnosis of cystic fibrosis should include an initial diagnosis, sweat test, carrier or genetic testing, and clinical examination at a CF Foundation-accredited care facility. Although most CF patients are diagnosed by the age of two, others are diagnosed later in life. To ensure a diagnosis of CF, a CF expert can arrange a sweat test and prescribe additional tests.


The types of CF symptoms and their severity can vary greatly from person to person. As a result, although treatment plans may include most of the same aspects, they are tailored to the specific needs of each individual.

Cystic fibrosis and pregnancy

While most people with CF can get pregnant and have healthy babies, the condition can affect fertility, delay pregnancy, and lead to premature or undersized babies. The pressures of pregnancy on a woman’s body can temporarily make her CF worse, even if it doesn’t seem to have a long-term effect. Many of the potential pitfalls can be avoided if she plans her pregnancy for when her CF is well controlled.


Some CF medications are thought to be harmful to an unborn baby, so you may need to adjust your treatment protocol before you conceive or as soon as you realize you’re pregnant. Researchers have determined which drug classes, and in certain cases, which specific drugs, should be considered first-line or second-line therapies, and which should only be taken if no other option is available.

You and your spouse must have the CF gene to be fertile and have a child with CF. To be afflicted, your child must inherit the CF gene from both parents. You would be considered a carrier if you got the gene from only one parent, but you would not have CF.

Because not all men with CF have infertility problems, it is essential that both partners be tested for the genetic disorder. You can have healthy children even if you are both carriers. The only known genetic causes of spermatogenic failure are chromosomal abnormalities and microdeletions of the azoospermia factor (AZF) regions of the Y chromosome. Infertility in men is mainly caused by genetic diseases that interfere with the creation of mature sperm and their production. transit to the ovum for fertilization.

Men with cystic fibrosis who want children can retrieve their sperm from the epididymis or testis and fertilize them in vitro with eggs taken from a female partner. There are several methods for sperm extraction.

It is best to consult your fertility expert and gain a greater understanding of cystic fibrosis.

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