Correlation between genito‐urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens

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Abstract
To evaluate the incidence of renal and seminal vesicle (SV) abnormalities, and the presence or absence of CFTR gene mutations, in a cohort of patients referred for congenital bilateral absence of the vas deferens (CBAVD). Forty-one patients with CBAVD, confirmed by surgical exploration, were evaluated by ultrasonography for renal and SV anomalies. Semen variables (pH, fructose level and ejaculate volume), sweat chloride levels and mutations of the 3, 4, 7, 9, 10, 11, 13, 14b, 17b, 19, 20 and 21 exons of the CFTR gene were determined. In eight patients with renal anomalies there were no detectable mutations of CFTR, compared with 23 in the 33 patients with no renal anomalies (PPPCFTR mutations in these cases should not be omitted. Unlike anomalies of the SV, a low ejaculate volume or low fructose level, a semen pH of CFTR mutations.