hrp0097fc8.2 | Fat, metabolism and obesity 2 | ESPE2023

Frequency of MC4R Pathway Variants in a European Cohort of Individuals With Early-Onset Severe Obesity

P. Goldstone Anthony , Dominguez-Riscart Jesus , Rosaria Umano Giuseppina , Pinhas-Hamiel Orit , Yildiz Melek , Manco Melania , Sleiman Patrick , Savoie Charles , Giri Dinesh , Argente Jesús

The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of hunger, energy balance, and weight regulation. Individuals who carry variants in MC4R pathway genes may present with early-onset severe obesity and hyperphagia. Historically, genetic testing in individuals with severe obesity has been limited. The Rare Obesity Advanced Diagnosis™ genetic testing program aims to enhance access to genetic testing for European individuals with suspected rare geneti...