• PMID: 10856487
• Gene Name: CFTR
• Condition: Obstructive azoospermia
• Association: Seminal plasma markers provide an effective, noninvasive method to predict CFTR mutations in men with obstructiveazoospermia.
• Population size: 59
• Population details: 59 men with obstructive azoospermia
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Obstructive azoospermia

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

von Eckardstein S, Cooper TG, Rutscha K, Meschede D, Horst J, Nieschlag E.

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. FAU - von Eckardstein, S AU - von Eckardstein S AD - Institutes of Reproductive Medicine and Human Genetics of the University, Münster, Germany. FAU - Cooper, T G AU - Cooper TG FAU - Rutscha, K AU - Rutscha K FAU - Meschede, D AU - Meschede D FAU - Horst, J AU - Horst J