Endocrine Abstracts

Introduction: Genetic testing can improve the diagnosis of rare genetic diseases of obesity and identify patients who may benefit from targeted therapeutic intervention. For example, patients with genetic defects in the melanocortin-4 (MC4R) pathway may present with severe early-onset obesity and hyperphagia. Historically, however, genetic testing in patients with obesity has been limited. The Uncovering Rare Obesity® diagnostic genetic testing program aims to enhance acc...

Introduction: The MC4R pathway is the principal regulator of mammalian energy balance through its modulation of energy intake and energy expenditure. Variants in genes associated with the MC4R pathway can result in rare genetic diseases of obesity. Clinical data in patients with certain genetic defects in the MC4R pathway indicate that setmelanotide, an MC4R agonist, may effectively reduce weight and hunger in scientifically rationalized obese subpopulations in which MC4R-path...