Cystic fibrosis transmembrane conductance regulator (CFTR) is a well-known component since it was found that some specific mutations of CFTR gene can cause cystic fibrosis and congenital bilateral absence of vas deferens (1, 2). Interestingly, more and more studies demonstrate that CFTR also modulates acute lung injury (ALI) (3-8), a devastating inflammatory lung syndrome characterized by diffu...

Duplication of the vas deferens is a very rare congenital anomaly in which two vasa deferentia coexist within the spermatic cord. Duplication of the vas deferens can be found during herniorrhaphy, vasectomy, and varicocelectomy performed on the spermatic cord or around the spermatic cord. However, it is estimated that the incidence of duplication of the vas deferens is under-reported and under-...

Epididymal agenesis is defined as the absence of the epididymis totally or segmentally, unilateral or bilateral, which is secondary to the Wolffian duct malformation (1). Rete testis, epididymis, vas deferens and seminal vesicle are believed to develop from Wolffian ducts.

(1) Introduction: Pathogenic variants in the CFTR (Cystic Fibrosis Transmembrane conductance Regulator, OMIM: 602421) gene cause Cystic (CF, 219700) and CF-related disorders (CF-RD), often accompanied by obstructive azoospermia due to congenital bilateral aplasia of vas deferens (CBAVD, 277180) male patients. The L138ins (c.413_415dup; p. (Leu138dup)) is a mild variant that relatively common am...