hrp0095p2-114 | Fat, Metabolism and Obesity | ESPE2022

Leptin receptor deficiency: a case report

Zufarova Yulduz , Kolodkina Anna , Tiulpakov Anatoly

Background: Leptin receptor deficiency leads to severe early-onset obesity and pituitary dysfunction. Here we present the first case of monogenic obesity due to a novel mutation in LEPR gene in Russia.Case report: 16-year-old female patient was admitted to our hospital with morbid obesity and primary amenorrhea. She was born at term with a birth weight of 3360 g to non-consanguineous parents. She had a mild deve...