hrp0092p1-55 | Fat, Metabolism and Obesity | ESPE2019

A Novel Recurrent Heterozygous Plin1 Mutation in Three Russian Patients with Partial Lipodystrophy, Dyslipidemia and Insulin Resistance

Tikhonovich Yulia , Sorkina Ekaterina , Kolodkina Anna , Vasilyev Evgeniy , Petrov Vasiliy , Pogoda Tatyana , Vasiukova Olga , Tiulpakov Anatoly

Introduction: The PLIN1 gene encodes perilipin - a lipid droplet coat protein expressed in adipocytes where it inhibits basal and facilitates stimulated lipolysis. Mutations in PLIN1 have been described in several families with partial lipodystrophy, dyslipidemia and insulin resistance (partial lipodystrophy type 4, Familial, FPLD4). Herein we describe a novel heterozygous c.1210-1delG splicing variant in PLIN1 gene in three unrelate...

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...