hrp0092p2-250 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

High Prevalence GnRH Receptor Mutations in Russian Patients with Idiopathic Hypogonadotropic Hypogonadism

Frolova Elena , Makretskaya Nina , Kalinchenko Natalya , Kolodkina Anna , Zubkova Natalya , Petrov Vasiliy , Vasilyev Evgeniy , Tiulpakov Anatoly

Background: GNRHR gene mutations are responsible for development to normosmic idiopathic hypogonadotropic hypogonadism (iHH) and known to be the most frequent cause of this condition. Nevertherless, the reported frequency of GNRHR mutations in iHH patients estimated to be as low as 3-6%.Objective: To evaluate the frequency of GNRHR gene defects in a heterogeneous group of Russian patients with iHH and described the p...