title: Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling.
abstract: OBJECTIVE
  To evaluate relationships between the phenotypic and genotypic characteristics of patients with congenital bilateral absence of the vas deferens (CBAVD).
  
  
  METHODS
  Retrospective study.
  
  
  METHODS
  A university hospital urology-andrology department.
  
  
  METHODS
  Forty-one men with CBAVD.
  
  
  METHODS
  CBAVD was diagnosed during surgical and/or ultrasound exploration of the vasa deferentia (VD) (n = 39), or on the basis of impalpable scrotal VD (n = 2).
  
  
  METHODS
  History, clinical and seminal characteristics, and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations including IVS-8 polyT analysis.
  
  
  RESULTS
  A palpable scrotal vas deferens was present as a fibrous cord or nonpermeable duct in 13% of patients undergoing surgical exploration. Seminal vesicles were bilaterally absent in 28% of patients. No CFTR gene mutation or 5T allele was detected in 24.5% of the patients. Two CBAVD patients with renal agenesis carried a CFTR gene mutation (DeltaF508/5T-9T and R117G/7T-9T). CBAVD patients who have both a semen volume of < or =1.0 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]).
  
  
  CONCLUSIONS
  A palpable scrotal vas deferens was found in 13% of CBAVD patients. Semen volume of < or =1.0 mL and semen pH of < 7.0 in CBAVD patients were associated with a higher risk of severe CFTR gene mutations. Patients with CBAVD and renal agenesis should be screened for CFTR gene mutations before assisted reproductive techniques are used.
authors: CECOS Midi-Pyrénées, Toulouse, France. daudin.m@chu-toulouse.fr
authors: M
authors: M
authors: Daudin
authors: E
authors: E
authors: Bieth
authors: L
authors: L
authors: Bujan
authors: G
authors: G
authors: Massat
authors: F
authors: F
authors: Pontonnier
authors: R
authors: R
authors: Mieusset
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000483:Alleles; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005632:Fructose / Q000378:metabolism; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D009994:Osmolar Concentration; D010641:Phenotype; D012189:Retrospective Studies; D012661:Semen / Q000378:metabolism / Q000502:physiology; D012669:Seminal Vesicles / Q000473:pathology; D013076:Sperm Count; D013737:Testis / Q000473:pathology; D014463:Ultrasonography; D014649:Vas Deferens / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005632:Fructose