Effect of cystic fibrosis transmembrane conductance regulator gene mutation on male fertility / 中国病理生理杂志

Large number of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are responsible for a wide spectrum of disease expressions in CF (cystic fibrosis). They includs not only the malfunction of the lung and pancreas, intestinal obstruction, and incapable of salt reabsorption, but also some kinds of male infertility, such as congenital bilateral absence of the vas deferens (CBAVD),poor sperm quality, the obstruction and agenesis of the epididymis. More recent studies have indicated that CFTR gene mutations have a far-reaching effect on human reproduction.