[Correlation of genitourinary abnormalities, spermiogram and CFTR genotype in patients with bilateral agenesis of the vas deferens].

Objectives: To evaluate the frequency of urogenital ultrasound and spermatic abnormalities in patients with bilateral vas deferens agenesis according to the presence or absence of CFTR gene mutation.

Methods: In 41 patients with bilateral vas deferens agenesis confirmed by surgical exploration between 1988 and 1997, renal and seminal vesicle anomalies were investigated by ultrasonography. Spermatic parameters (pH, fructose and ejaculate volume) were also studied, together with sweat chloride assay and PCR of mutations on exons 3, 4, 7, 9, 10, 11, 13, 14b, 17b, 19, 20 and 21 of the CFTR gene.

Results: None of the 8 patients with a renal anomaly presented a CFTR gene mutation, versus 23 out of 33 patients without a renal anomaly (p < 0.02). Seminal vesical anomalies were not more frequent in patients with or without mutations (11/20 versus 13/19, p = NS), except for composite heterozygous patients (with 2 mutations: 8/13 versus 4/11, p = NS). Spermatic parameters (pH < 7.2, fructose < 1 g/l and volume < 2 ml) could not distinguish between patients with or without renal or seminal vesical anomalies or mutation, except for patients with pH < 7.2, who presented fewer renal anomalies (2/25 versus 6/16, p < 0.05) and a higher incidence of gene mutation (19/25 versus 5/12, p < 0.01).

Conclusion: Renal agenesis is considered to be pathognomonic of a developmental anomaly. Unlike a seminal vesical anomaly, a semen volume < 2 ml or fructose < 1 g/l, pH less than 7.2 is a nonspecific parameter, but more frequently present in patients with CFTR mutation.