hrp0097p1-270 | Fat, Metabolism and Obesity | ESPE2023
C Mendes Ariana
, Pereira Janet
, Mirante Alice
, M Saraiva Jorge
, R. Soares Ana
, B. Sousa Sérgio
, Rosmaninho-Salgado Joana
Background: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of non-syndromic obesity. MC4R is a seven transmembrane G-protein coupled receptor implicated in central regulation of body weight. The loss-of-function mutations in MC4R gene will contribute to early-onset obesity associated with hyperinsulinemia, hyperphagia and “binge eating”. We aim to determine the prevalence of MC4R variants in a Pediatrics...