title: Seminal plasma characteristics as indicators of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in men with obstructive azoospermia.
abstract: OBJECTIVE
  To determine the prognostic value of seminal plasma volume, pH, fructose, and alpha-glucosidase for the detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations.
  
  
  METHODS
  Retrospective data analysis.
  
  
  METHODS
  University infertility clinic (referral center).
  
  
  METHODS
  Fifty-nine men with obstructive azoospermia.
  
  
  METHODS
  Semen analysis including seminal plasma volume, pH, fructose, alpha-glucosidase, molecular genetic diagnosis of CFTR mutations and FSH measurement.
  
  
  METHODS
  Sensitivity and specificity of seminal plasma markers for the detection of CFTR mutations.
  
  
  RESULTS
  A CFTR mutation was detected in 26 of 59 patients with obstructive azoospermia. Patients carrying a mutation had significantly lower seminal plasma volume (mean +/- SEM: 1.5 +/- 1.4 mL vs. 2.8 +/- 2.2 mL), lower pH levels (25th percentile, median, 75th percentile: 6.5, 6.8, 7.5 vs. 7.7, 7. 9, 7.9) and lower fructose content (1.0, 1.1, 3.7 vs. 5.8, 20.0, 83. 0 micromol/ejaculate) than those without mutations. Diagnostic efficacy for detection of mutations was best (pH 81.4%, fructose 81. 8%) at a cutoff level for pH of 7.4 and fructose of 2 micromol/ejaculate.
  
  
  CONCLUSIONS
  Seminal plasma markers provide an effective, noninvasive method to predict CFTR mutations in men with obstructive azoospermia.
authors.affiliation: Institutes of Reproductive Medicine and Human Genetics of the University, Münster, Germany.
authors.forename: S
authors.initials: S
authors.lastname: von Eckardstein
authors.forename: T G
authors.initials: TG
authors.lastname: Cooper
authors.forename: K
authors.initials: K
authors.lastname: Rutscha
authors.forename: D
authors.initials: D
authors.lastname: Meschede
authors.forename: J
authors.initials: J
authors.lastname: Horst
authors.forename: E
authors.initials: E
authors.lastname: Nieschlag
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005632:Fructose / Q000378:metabolism; D005787:Gene Frequency; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009845:Oligospermia / Q000235:genetics* / Q000503:physiopathology*; D011237:Predictive Value of Tests; D012661:Semen / Q000378:metabolism / Q000502:physiology*; D012680:Sensitivity and Specificity
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005632:Fructose