CONGENITAL BILATERAL ABSENCE OF THE VAS-D EFERENS AND CYSTIC-FIBROSIS

Aspermia caused by absence of the vas deferens is well known in cystic fibrosis. It has been suggested that otherwise healthy males with con genital bilateral absence of the vas deferens (CBAVD), which was previ ously considered a distinct genetic entity, have an increased frequenc y of CF gene mutations. CBAVD is now considered to be a mild form of c ystic fibrosis. We report the case of an azoospermic man who had under gone exploratory scrototomy because of aplasia of the epididymis and v as deferens. Genetic screening for cystic fibrosis revealed a compound heterozygote for CFTR mutations Delta F 508 and R 117 H.