hrp0097fc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

ROHHAD syndrome, thrombotic risk and endothelial damage: a single center experience.

Marcenaro Silvia , Napoli Flavia , Pistorio Angela , Angelelli Alessia , Fava Daniela , Susca Francesco , Giordano Benedetta , Caporotondi Benedetta , Tantari Giacomo , Camia Tiziana , d'Annunzio Giuseppe , Maghnie Mohamad

Background: ROHHAD/ROHHADNET syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation with or without neural tumor - NET) – has been reported in association with cerebral venous thrombosis events, as reported also in central hypoventilation syndrome. It is not clear whether thrombotic risk represents a cause or a consequence of hypoventilation and hypothalamic dysfunction. Aim of our study was to chara...

hrp0097p1-263 | Fat, Metabolism and Obesity | ESPE2023

Evaluating genotype-phenotype relations in pediatric obesity: a single centre experience.

Giordano Benedetta , Caporotondi Benedetta , Susca Francesco , Napoli Flavia , Fava Daniela , Casalini Emilio , Pistorio Angela , Tantari Giacomo , Camia Tiziana , d'Annunzio Giuseppe , Maghnie Mohamad

Background: Childhood-onset obesity is a multifactorial disease with a lifelong health burden. In many cases, obesity is the result of the interaction between genetic predisposition and environmental factors. Aim of our study was to define phenotypic features of obese children and adolescents and to find possible associations between clinical phenotype and genetic variants.Patients and Methods: We recruited obese childre...