Treatment Approaches for Obesity in Children With Heterozygous MC4R Variants

Melanocortin-4 receptor (MC4R) deficiency is the most common cause of monogenic obesity; yet treatment options for children with MC4R mutations are limited. We describe significant improvement in weight in three patients with pathogenic or likely pathogenic MC4R mutations; two adolescents treated with semaglutide, and a younger child treated with metformin and topiramate. These findings indicate GLP-1 receptor agonists, topiramate and metformin can be helpful in managing obesity associated with MC4R deficiency.