HETEROGENEITY OF REPRODUCTIVE-TRACT ABNORMALITIES IN MEN WITH ABSENCEOF THE VAS-DEFERENS - ROLE OF CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE-MUTATIONS

Objective: To determine if the types of reproductive tract abnormaliti es linked to absence of the vas deferens varies with the cystic fibros is transmembrane conductance regulator (CFTR) genotype. Design: Prospe ctive data gathering. Setting: University infertility clinic. Patient( s): Forty-six infertile men with absence of the scrotal vas deferens a nd no signs of cystic fibrosis. Intervention(s): All had blood taken f or CFTR gene analysis, 33 had scrotal ultrasounds, and 25 had transrec tal ultrasounds. Main Outcome Measure(s): The frequency of testicular, seminal vesicle, and ampullae of the vas deferens malformations was c ompared between subgroups of men with two, one, or no CFTR gene mutati ons. Result(s): None (0 of 21) of the men with at least one CFTR gene mutations had normal ampullae of the vas or seminal vesicles bilateral ly. Two (50%) of 4 men with no CFTR gene mutations had normal ampullae of the vas deferens bilaterally, and 50% had normal bilateral seminal vesicles (statistically significantly different). There was no correl ation between testicular malformations and CFTR genotype. Conclusion(s ): This study indicates that the severity of the malformations in the testis is unrelated to the CFTR genotype, whereas the frequency and se verity of wolffian duct malformations are related directly to the CFTR genotype. (Fertil Steril(R) 1998;70:724-8. (C) 1998 by American Socie ty for Reproductive Medicine.).