Case report shows improved weight in children with MC4R mutations using semaglutide and metformin, indicating effective treatment strategies.
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.
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Salama et al. (2026) studied this question.
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