Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling
M. Daudin et al., Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling, FERT STERIL, 74(6), 2000, pp. 1164-1174
Objective: To evaluate relationships between the phenotypic and genotypic c
haracteristics of patients with congenital bilateral absence of the vas def
erens (CBAVD).
Design: Retrospective study.
Setting: A university hospital urology-andrology department.
Patient(s): Forty-one men with CBAVD.
Intervention(s): CBAVD was diagnosed during surgical and/or ultrasound expl
oration of the vasa deferentia (VD) (n = 39), or on the basis of impalpable
scrotal VD (n = 2).
Main Outcome Measure(s): History, clinical and seminal characteristics, and
cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations
including IVS-8 polyT analysis.
Result(s): A palpable scrotal vas deferens was present as a fibrous cord or
nonpermeable duct in 13% of patients undergoing surgical exploration. Semi
nal vesicles were bilaterally absent in 28% of patients. No CFTR gene mutat
ion or 5T allele was detected in 24.5% of the patients. Two CBAVD patients
with renal agenesis carried a CFTR gene mutation (Delta F508/5T-9T and R117
G/7T-9T). CBAVD patients who have both a semen volume of less than or equal
to1.0 mL and a semen pH of <7.0 have a significantly higher risk of severe
CFTR gene mutation (OR = 9.12 [95% CI = 1.81-49.50]).
Conclusion(s): A palpable scrotal vas deferens was found in 13% of CBAVD pa
tients. Semen volume of <less than or equal to>1.0 mL and semen pH of <7.0
in CBAVD patients were associated with a higher risk of severe CFTR gene mu
tations. Patients with CBAVD and renal agenesis should be screened for CFTR
gene mutations before assisted reproductive techniques are used. (Fertil S
teril(R) 2000;74:1164-74. (C) 2000 by American Society for Reproductive Med
icine).