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Chronic Disease of Obesity - Obesity Algorithm 2024

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7 Genetic Syndromes: Key Examples Key Signs Genetics Melanocortin 4 receptor (MC4R) deficiency • Hyperphagia • Accelerated linear growth • Insulin resistance • Autosomal dominant or recessive • Most common form of monogenetic obesity Proopiomelanocortin (POMC) deficiency • Hyperphagia • Adrenal crisis (ACTH deficiency) • Hypopigmentation • Pale skin and red hair Autosomal recessive Leptin deficiency • Hyperphagia • Hypogonadism • Absence of growth spurt • Impaired T cell function Autosomal recessive Bardet-Biedl Syndrome • Hyperphagia • Vision loss • Polydactyly • Hypogonadism • Renal disease • Metabolic syndrome Autosomal recessive Cohen Syndrome • Central obesity with thin arms and legs • Small head with thick hair, eyebrows, and eyelashes • Developmental delay • Retinal dystrophy • Joint hypermobility • Overly f riendly behavior • Neutropenia Autosomal recessive Prader-Willi Syndrome • Hypotonia and poor feeding at birth • Hyperphagia develops at 2 years • Thin face with almond-shaped eyes • Short stature with small hands/ feet • Delayed development and intellectual impairment • Hypogonadism • Paternal chromosome 15 partial loss of function (usually not inherited) • Most common form of syndromic obesity Albright's Hereditary Osteodystrophy • Short stature • Round face • Dental abnormalities • Shortened f ingers/toes • Pseudohypoparathyroidism • Associated with genetic imprinting in an autosomal dominant manner

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