P023 Phenotypic variability in reproductive disorders, clinical and semen parameters in cystic fibrosis male patients with 3849+10kbC>T variant of the CFTR gene

Objectives: Almost all men with Cystic Fibrosis (CF) are infertile mainly because of congenital bilateral aplasia vas deferens, VD (CBAVD) resulted to obstructive azoospermia. Some 3849+10kbC>T variant the CFTR gene can be fertile no obstruction, however factor(s) this phenotypic variability unknown. Materials and methods: We examined 23 adult PS-CF, having gene. Semen examination, clinical, andrologic, hormonal, biochemical molecular genetic tests were used. Results: Azoospermia oligospermia low pH, indicating on CBAVD seminal vesicles, detected in 6 (26%) patients. Other spermatology diagnoses (indicating an absence CBAVD) was found 17 (74%) Also, significant difference revealed between non-CBAVD patients sweat chloride (122.6 ± 43.1 vs 81.85 17.3 mmol/l, respectively; p <0.01, Mann-Whitney U-test). No statically genotype, patients’ age (27.3 7.3 y.o. 25.4 6.6 y.o., = 0.55), CF diagnosis (15.8 13.5 17.2 y.o.; 0.74), BMI (17.8 1.8 kg/m2 21.7 4.3 kg/m2; 0,052), FEV1 (59.2 21.6% 54.8 34.3%; > 0.05), bi-testicular volume (27.2 10.0 ml 24.3 10.5 ml; 0,05), testosterone level (3.9 1.6 ng/ml 4.6 1.2 ng/ml; 0,55). Conclusion: differences However, further larger cohort studies non-genetic pathogenic factors affected fertility required.