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ABS TRACT Objective: In the present study, we aimed to determine a possible association of specific polymorphisms of IL-1β genes with enhanced production of IL-1β in patients with idiopathic hypogonadotropic hypogonadism (IHH). Material and Methods: Forty-five male IHH patients who had no familial relationship with each other and 58 ethnically matched healthy male controls were enrolled in the study. Patients were diagnosed with IHH according to failure in spontaneus puberty and decreased serum testosterone concentration below normal range for adults. Serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels were low or in normal range in patients with IHH. In this study, we analyzed the gene polymorphisms of IL-1β at positions -511 and +3953 and serum IL-1β levels in patients with IHH and control subjects. For this purpose, we used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and enzyme-linked immunosorbent assay (ELISA) methods. Results: The frequency of genotype 2/2 of IL1β-511 gene was significantly higher in patients with IHH compared to healthy control subjects (24.4% vs 8.6%, respectively, p= 0.019). Although there was no significant difference in serum concentrations of IL-1β between total patients with IHH and healthy controls, the levels in the patients with the 1/2 genotype of IL-1β-511 and with the 2/2 genotype of IL-1β-511 were found significantly higher than the levels of patients with the 1/1 genotype of IL-1β-511. Conclusion: Our results indicate that IL-1β-511 gene polimorphism may be the cause of increased IL-1β production in patients with IHH.

Specific Polymorphisms of IL-1β Genes (-511, +3953) and Their Probable Effects on IL-1β Production in Idiopatic Hypogonadotropic Hypogonadism