hrp0097p1-74 | Fat, Metabolism and Obesity | ESPE2023

A novel mutation of leptin gene in two siblings with early onset obesity

Deodati Annalisa , amodeo mariaelisa , mirra giulia , pampanini valentina , cianfarani stefano

Background: Congenital leptin deficiency is a rare cause of early-onset severe obesity. Clinical features of congenital leptin deficiency include early-onset severe obesity, marked hyperphagia, endocrine and metabolic alterations. Some patients have immune dysregulation.Case report: We describe two siblings from Libya referred for severe obesity. A boy (patient 1) referred at the age of 4 years and 3 months and a girl (p...

hrp0097p1-148 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Prevalence of brain alterations in boys with isolated central precocious puberty

Amodeo Mariaelisa , Deodati Annalisa , Pedicelli Stefania , Pampanini Valentina , Cianfarani Stefano

Introduction: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in boys with central precocious puberty (CPP). In contrast to girls, in whom more than 90% of cases are idiopathic, it has been reported that 4 up to 75% of boys with CPP have pathological brain lesions.Aim: to evaluate the prevalence of brain lesions in males with isolated CPP and to identify potential clinical and bioc...