Pathogenic variants of the CFTR gene can result in a congenital bilateral absence of the vas deferens, which could be an isolated syndrome (Congenital Bilateral Aplasia (absence) of the Vas Deferens (CBAVD, OMIM# 277180)) or a clinical feature of CF, leading to obstructive azoospermia in 95% of males with CF [5,6]. The gene discussed is CFTR; the disease is cystic fibrosis.