Seminal plasma characteristics as indicators of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in men with obstructive azoospermia.
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.
von Eckardstein
S
S
Institutes of Reproductive Medicine and Human Genetics of the University, Münster, Germany.
Cooper
T G
TG
Rutscha
K
K
Meschede
D
D
Horst
J
J
Nieschlag
E
E
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005632:Fructose