Endocrine Abstracts

Background: Rare genetic disorders of obesity result from an impaired central melanocortin pathway, comprised of multiple genes, including POMC, PCSK1, and LEPR. Because of their rarity and the difficulty in identifying individuals with pathogenic mutations in these genes, a complete understanding of these disorders remains unclear. We reviewed previous case reports of individuals with POMC, PCSK1, or LEPR deficiencies to understand their cl...