Reports of Three Cases of Atypical Cystic Fibrosis with Azoospermia

Abstract

Cystic Fibrosis is the most common autosomal recessive genetic disease in Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing. This study wants to underline that the identification of individuals with atypical cystic fibrosis can sometimes present particular difficulties of interpretation. On that ground, if there is a strong clinical suspicion, it is always advisable the biochemical study by performing the sweat test, followed by sequencing of the CFTR gene. Not all patients with cystic fibrosis have abnormal sweat chloride levels, severe lung disease, or failure to thrive. These three cases remind us to think "outside the box." For these reasons, in patients with idiopathic azoospermia, it is important to perform the sequencing of CFTR gene.