hrp0098fc11.1 | Fat, Metabolism and Obesity 2 | ESPE2024

Frequency of rare syndromic diseases in a population with early-onset obesity

Goldstone Anthony , Nazlı Gönç Elmas , Manco Melania , Rachmiel Marianna , Rivera Cuello Mercedes , Sleiman Patrick , Savoie Charles , Argente Jesús , le Roux Carel

Introduction: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with hyperphagia and early-onset obesity. Increasing awareness of genetic testing could improve diagnosis and identification of patients who might benefit from novel precision therapies. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing prog...