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CFTR mutation and CBAVD
- Question
- My 18 year old son has been treated for a thyroid carcinoma. Before the treatment he had a sperm analysis. The conslusion was a diagnosis of azoospermia related to a congenital bilateral absence of vas deferens. So he underwent an analysis of CFTR gene mutation. A mild CFTR mutation was identified. He has to undergo a sweat test and a genetic counselling. I am worried. Can he be affected by cystic fibrosis? How does this disease progresses?
- Answer
- CFTR mutations are frequently associated with congenital absence of vas deferens. Usually, these mutations are qualified as "mild" mutations, associated with partially preserved CFTR function. In many cases there are no other clinical expressions exept azoospermia, particularly no pancreatic insufficiency and no bronchiectasia. There is sometimes rhinosinusitis associated with azoospermia. The chloride concentration in the sweat test can identified "intermediate" values, between 40 to 60 mmol/l without clinical consequences.
We previously published a prospective study of these cases and have shown that there is no risk to develop cystic fibrosis clinical symptoms if the symptoms are not present when azoospermia was diagnosed.
Pr Isabelle Durieu - 02.07.2012
