CF mutation

Question

Hello,

I am 31 years old. In line with a clarification test if I am fertile or not a genetic analysis was done.

Result:
Evidence of the mutation f508del and r117h heterozygous.

Suspicion of CBAVD [Congenital Bilateral Absence of the Vas Deferens].
Testicular biopsy in a few days.

1) Has this gene mutation further effects on my health status and my life expectancy?

2) Is it possible that this mutation has effects on spermiogenesis? Or is CBAVD the only limitation?

Many thanks.

Answer

Dear questioner,

Many thanks for your question. Actually, the combination of the detected mutation (dF508/R117H) is one of the frequent mutations that are found in men in line with an infertility clarifcation test. Generally speaking, the combination of the two mutations leads to a rather “atypical” CF with usually relatively little symptoms, i.e. the pancreatic function is usually working and pulmonary symptoms are generally very mild, if present at all. In principle, you can therefore assume a normal life expectancy.

However, it is possible that you have a few symptoms typical of CF that have not been interpreted as such yet (e.g. chronic sinus infection, mild asthma, etc.). In this regard, I absolutely recommend you get an assessment done at a specialized CF centre, including a comprehensive lung function test and, if necessary, a CAT scan of the lungs. After that, the doctors will be able to tell you exactly how pronounced the CF is in your case.

Concerning the spermatogenesis, you do not need to worry. CF “only” leads to missing spermatic ducts; neither the sperm production nor the production of male hormones are directly affected by CF.

Kind regards, and good luck with your wish to have children.

Dr. med. Markus Hofer
Adult CF Clinic
Zurich University Hospital

27.10.2011