Gaillard D A, Carré-Pigeon F, Lallemand A
Reproduction and Developmental Biology Department, UFR Medicine, Inserm U314, Reims, France.
J Urol. 1997 Oct;158(4):1549-52.
Infertility in patients with cystic fibrosis has been attributed to the congenital bilateral absence of the vas deferens. We studied the vas deferens in cystic fibrosis fetuses to determine whether this condition could be related to primary developmental abnormalities or to secondary obstructions.
Two cystic fibrosis male fetuses, with deltaF508+/+ and deltaF508/G542X genetic mutations, were examined after abortion at 12 and 18 weeks, respectively. The lumens of the vas deferens were measured using histological serial sections in the 2 cystic fibrosis fetuses and in 6 control fetuses.
The vas deferens of cystic fibrosis and control fetuses showed a similar development. The diameters of the lumens were smaller at the extremities than in the medial part of the duct in cystic fibrosis and in control fetuses. No epithelial necrosis, focal dilatation or fibrous stenosis could be detected at any age. Secretions were observed in the lumen of the vas deferens of the homozygous fetus, but no obstruction was detected.
The normal organogenesis of the vas deferens, the presence of secretions filling the lumen of the deltaF508 +/+ fetus and the high proportion of normal ducts reported in prepubertal male cystic fibrosis patients suggest a mechanism of luminal obstruction resulting in duct atrophy and infertility in male adults with cystic fibrosis. The term "atresia" or "inspissation" should be used in cases of congenital bilateral absence of the vas deferens associated with cystic fibrosis mutations, whereas the term "agenesis" should be used for cases of congenital bilateral absence of the vas deferens associated with urogenital abnormalities in which regional defects occur during organogenesis.
囊性纤维化患者的不育症被认为是由于先天性双侧输精管缺如。我们研究了囊性纤维化胎儿的输精管，以确定这种情况是否与原发性发育异常或继发性梗阻有关。
分别在12周和18周流产后检查了两名患有ΔF508+/+和ΔF508/G542X基因突变的囊性纤维化男性胎儿。使用组织学连续切片测量了2例囊性纤维化胎儿和6例对照胎儿的输精管管腔。
囊性纤维化胎儿和对照胎儿的输精管显示出相似的发育情况。囊性纤维化胎儿和对照胎儿的输精管管腔直径在两端比在管道中部小。在任何年龄均未检测到上皮坏死、局灶性扩张或纤维性狭窄。在纯合子胎儿的输精管管腔中观察到分泌物，但未检测到梗阻。
输精管的正常器官发生、ΔF508 +/+胎儿管腔内有分泌物以及青春期前男性囊性纤维化患者中正常管道的高比例表明，管腔梗阻机制导致成年男性囊性纤维化患者的输精管萎缩和不育。与囊性纤维化突变相关的先天性双侧输精管缺如病例应使用“闭锁”或“浓缩”一词，而与泌尿生殖系统异常相关的先天性双侧输精管缺如病例应使用“发育不全”一词，其中在器官发生过程中出现区域缺陷。
