hrp0094p2-209 | Fat, metabolism and obesity | ESPE2021

A novel homozygous variant of the leptin receptor (LEPR) gene causing familiar early-onset severe obesity in two siblings

Molinari Silvia , Ceccarini Giovanni , Masera Nicoletta , Spano Alice , Maitz Silvia , Fossati Chiara , Lazzerotti Alessandra , Santini Ferruccio , Cattoni Alessandro ,

Introduction: The leptin-melanocortin pathway is a well-studied pivotal player of body weight regulation and energy homeostasis. Pathogenic mutations of the genes involved in this pathway may result in early-onset severe obesity (ESO).Case Report: We hereby report the case of a 14-year-old girl who was referred to our pediatric outpatient clinic for the evaluation of ESO. Her parents were non-obese first cousins born in Morocco. At the t...