Purpose of Review Obesity is a common problem encoun- vital for genetic counseling and appropriate follow-up and tered daily by pediatricians. Although most obesity results treatment. from an “obesogenic” environment, single gene mutations in . . . the hypothalamic leptin-melanocortin pathway may cause se- Keywords Monogenic obesity Pediatric obesity Leptin . . vere hyperphagia and early-onset obesity. This review dis- Pro-opiomelanocortin Melanocortin Hyperphagia cusses features of monogenic obesity to help pediatricians identify affected patients and offers insights into diagnosis and treatment by pediatric endocrinologists, geneticists, and Introduction other subspecialists. Recent Findings In addition to leptin, the leptin receptor, pro- Evaluation and management of pediatric obesity is a challenge opiomelanocortin (POMC), and the melanocortin receptors, that increasingly falls on the general pediatrician. Most cases genes mutated in children with monogenic obesity include of common, so-called “exogenous”,or “polygenic”,obesity single-minded 1, brain-derived neurotrophic factor, and tropo- arise in the context of an “obesogenic” environment, with myosin receptor kinase B. Improved understanding of signal- contributions from lifestyle, the microbiome, and multiple ge- ing pathways has stimulated the development of novel thera- netic and epigenetic determinants. Rarely, however, obesity pies, including recombinant leptin (metreleptin) for leptin de- can be attributed to a single gene
Current Pediatrics Reports – Springer Journals
Published: Jun 21, 2017
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