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hrp0097lb19 | Late Breaking | ESPE2023

Identification of a novel homozygous mutation in LEPR gene associated with severe early-onset pediatric obesity in two sisters from Central Brazil

Machado Pinto Renata , P Pinto Irene , G Rodovalho Ricardo , de O Silva Lorena , VC Fukushima Lorraine , S Moreira Vanessa , S B de Souza Cristiane

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...

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ESPE Abstracts

Identification of a novel homozygous mutation in LEPR gene associated with severe early-onset pediatric obesity in two sisters from Central Brazil

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