Monogenic forms of obesity are rare, early-onset disorders caused by single-gene mutations disrupting central pathways regulating energy homeostasis. Typically associated with hyperphagia and severe weight gain in infancy or childhood, they often involve the leptin-melanocortin pathway. Diagnosis may be challenging due to phenotypic overlap with common obesity. Management includes genetic testing and, in selected cases, targeted therapies such as leptin or MC4R agonists.
Obesità monogenica: le attuali possibilità terapeutiche
Palladino, Lavinia;Ceccarini, Giovanni;Gilio, Donatella;Magno, Silvia;Pelosini, Caterina;Santini, Ferruccio
2025-01-01
Abstract
Monogenic forms of obesity are rare, early-onset disorders caused by single-gene mutations disrupting central pathways regulating energy homeostasis. Typically associated with hyperphagia and severe weight gain in infancy or childhood, they often involve the leptin-melanocortin pathway. Diagnosis may be challenging due to phenotypic overlap with common obesity. Management includes genetic testing and, in selected cases, targeted therapies such as leptin or MC4R agonists.File in questo prodotto:
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Obesità monogenica- le attuali possibilità terapeutiche Monogenic obesity- Current therapeutic options.pdf
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