Incidence of the CFTR Variant p.F508C in a Cohort of Patients with CBAVD

摘要

Congenital bilateral absence of the vas deferens (CBAVD) leading to obstructive azoospermia accounts for up to 2% of male infertility. In the majority of patients, this condition is associated with defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutations in the CFTR gene also cause cystic fibrosis (CF). CBAVD diagnosed in patients with CFTR mutations is considered a CFTR-related disorder.