title: Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations.
abstract: OBJECTIVE
  To determine if the types of reproductive tract abnormalities linked to absence of the vas deferens varies with the cystic fibrosis transmembrane conductance regulator (CFTR) genotype.
  
  
  METHODS
  Prospective data gathering.
  
  
  METHODS
  University infertility clinic.
  
  
  METHODS
  Forty-six infertile men with absence of the scrotal vas deferens and no signs of cystic fibrosis.
  
  
  METHODS
  All had blood taken for CFTR gene analysis, 33 had scrotal ultrasounds, and 25 had transrectal ultrasounds.
  
  
  METHODS
  The frequency of testicular, seminal vesicle, and ampullae of the vas deferens malformations was compared between subgroups of men with two, one, or no CFTR gene mutations.
  
  
  RESULTS
  None (0 of 21) of the men with at least one CFTR gene mutations had normal ampullae of the vas or seminal vesicles bilaterally. 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 correlation between testicular malformations and CFTR genotype.
  
  
  CONCLUSIONS
  This study indicates that the severity of the malformations in the testis is unrelated to the CFTR genotype, whereas the frequency and severity of wolffian duct malformations are related directly to the CFTR genotype.
authors.affiliation: Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Jarvi
authors.forename: S
authors.initials: S
authors.lastname: McCallum
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
authors.forename: P
authors.initials: P
authors.lastname: Durie
authors.forename: E
authors.initials: E
authors.lastname: Tullis
authors.forename: M
authors.initials: M
authors.lastname: Wilchanski
authors.forename: M
authors.initials: M
authors.lastname: Margolis
authors.forename: M
authors.initials: M
authors.lastname: Asch
authors.forename: B
authors.initials: B
authors.lastname: Ginzburg
authors.forename: S
authors.initials: S
authors.lastname: Martin
authors.forename: M B
authors.initials: MB
authors.lastname: Buckspan
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
mesh_terms: D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D014644:Genetic Variation; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009154:Mutation; D011446:Prospective Studies; D012007:Rectum; D012611:Scrotum / Q000000981:diagnostic imaging; D014463:Ultrasonography; D014649:Vas Deferens / Q000002:abnormalities*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator