ESPE Abstracts

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hrp0098p1-236 | Fat, Metabolism and Obesity 4 | ESPE2024

Prevalence of variants in the Leptin Melanocortin 4 receptor (MC4R) pathway in an Israeli cohort of children with severe obesity and their clinical and laboratory characteristics

Ben Ami Michal , Ludar Hanna , Koren Ilana , Keidar Tal , Stern Eve , Landau Zohar , Brener Avivit , Lebenthal Yael , Wittenberg Avigail , Rachmiel Marianna , Pivko-Levy Dikla , Ben-Ari Tal , Mauda Elinor , Levek Noah , Eli Noy , Levran Neria , Uretzky Adi , Gruber Noah , Pinhas-Hamiel Orit

Background: Monogenic obesity is a rare form of obesity caused by pathogenic variants in genes implicated in the leptin–melanocortin receptor (MC4R) signaling pathway. The MC4R pathway plays a crucial role in the regulation of satiety, energy balance, and body weight. Abnormalities in the leptin–melanocortin pathway are characterized by early weight gain, hyperphagia, and severe obesity.Objective: To investig...
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ESPE Abstracts

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