Obesity due to proopiomelanocortin (POMC) deficiency

Obesity due to proopiomelanocortin (POMC) deficiency is an extremely rare, autosomal recessive monogenic obesity disorder affecting the central nervous and endocrine systems It is caused by homozygous or compound heterozygous loss-of-function variants in the *POMC* gene, which impairs the synthesis of key downstream cleavage peptides including alpha-melanocyte-stimulating hormone (α-MSH) and adrenocorticotropic hormone (ACTH) Co-occurring features often include secondary adrenal insufficiency fr...

Obesity due to proopiomelanocortin (POMC) deficiency is an extremely rare, autosomal recessive monogenic obesity disorder affecting the central nervous and endocrine systems

It is caused by homozygous or compound heterozygous loss-of-function variants in the *POMC* gene, which impairs the synthesis of key downstream cleavage peptides including alpha-melanocyte-stimulating hormone (α-MSH) and adrenocorticotropic hormone (ACTH) Loss of α-MSH signaling at hypothalamic melanocortin-4 receptors (MC4R) disrupts central satiety and energy balance regulation, resulting in intractable, early-onset hyperphagia and severe pediatric obesity typically established within the firs...

Loss of α-MSH signaling at hypothalamic melanocortin-4 receptors (MC4R) disrupts central satiety and energy balance regulation, resulting in intractable, early-onset hyperphagia and severe pediatric obesity typically established within the first year of life