AI Article Synopsis

  • Obesity is a complex disorder influenced by a mix of genetics and environmental factors, with several gene variants linked to food intake and leptin's effects in the brain.
  • Advances in next-generation sequencing have revealed a higher incidence of genetic factors associated with obesity than previously thought.
  • Early diagnosis of both syndromic and non-syndromic monogenic obesity is crucial to prevent the use of ineffective treatments like surgery or non-specific medications.

Article Abstract

Obesity is a disorder of multifactorial origin in which both genetic and environmental factors intervene. Currently, numerous gene variants related to the control of intake and the mechanism of action of leptin in the central nervous system through the melanocortin pathway have been described. The accessibility to molecular studies through next-generation sequencing panels that include dozens of genes related to this condition shows that the incidence is much higher than previously reported. This review intended to provide information on the diagnostic procedures and therapeutic interventions available specifically for the management of hyperphagia and obesity in affected patients. Early recognition of syndromic and non-syndromic monogenic obesity avoids the indication of risky interventions with no longterm benefit such as surgery and non-specific drugs. The presence of early severe obesity and hyperphagia, together with neurodevelopmental, metabolic and endocrine disorders should lead to the request of genetic studies in search of a definitive diagnosis.

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