Seminal plasma characteristics as indicators of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in men with obstructive azoospermia

Fertil Steril. 2000 Jun;73(6):1226-31. doi: 10.1016/s0015-0282(00)00516-1.

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.

Design: Retrospective data analysis.

Setting: University infertility clinic (referral center).

Patient(s): Fifty-nine men with obstructive azoospermia.

Intervention(s): Semen analysis including seminal plasma volume, pH, fructose, alpha-glucosidase, molecular genetic diagnosis of CFTR mutations and FSH measurement.

Main outcome measure(s): Sensitivity and specificity of seminal plasma markers for the detection of CFTR mutations.

Result(s): 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.

Conclusion(s): Seminal plasma markers provide an effective, noninvasive method to predict CFTR mutations in men with obstructive azoospermia.

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Fructose / metabolism
  • Gene Frequency
  • Humans
  • Hydrogen-Ion Concentration
  • Male
  • Middle Aged
  • Mutation*
  • Oligospermia / genetics*
  • Oligospermia / physiopathology*
  • Predictive Value of Tests
  • Semen / metabolism
  • Semen / physiology*
  • Sensitivity and Specificity

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Fructose