Can CFTR make you infertile?

Ninety-eight percent of men with CF are infertile. Although their body creates sperm, a blocked or missing vas deferens prevents the sperm from mixing with the semen. This blocked or missing vas deferens is one of the problems caused by the CFTR genetic mutation. Sexual desire and performance are generally normal.

What happens when the CFTR gene is mutated?

Mutations in the CFTR gene cause the CFTR protein to malfunction or not be made at all, leading to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of the pancreas, and complications in other organs. Cystic fibrosis is an example of a recessive disease.

What causes the CFTR mutation?

This mutation is caused by the deletion of three base pairs of the CFTR gene leading to the loss of an amino acid called phenylalanine, abbreviated F, in the CFTR protein. Everyone receives one copy of the CFTR gene from each parent.

Are females with CF infertile?

Women with CF have thicker cervical mucus and can have ovulation issues due to poor nutrition. However, the majority of women with CF are fertile and can become pregnant if appropriate contraception is not used.

Can Trikafta help with fertility?

As with other modulator drugs, Trikafta may increase female fertility because it thins out cervical mucus (link to fertility guide).

Is cystic fibrosis caused by deletion mutation?

A mutation known to occur in cystic fibrosis is the deletion of phenylalanine 508 (F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR). The amino acid is in the first nucleotide-binding domain (NBD) of CFTR. This mutation leads to defective channel processing and gating problems.

Can you have a baby if you have cystic fibrosis?

Pregnancy is possible for women with cystic fibrosis but it can pose serious risks and challenges. If you have cystic fibrosis, it is best to visit with your health care provider to assess your personal risks before becoming pregnant.