Publications by authors named "Andrea Patrono"
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.
Introduction: Monogenic obesity is caused by a unique genetic dysfunction, often appears in childhood, and can be accompanied by neuroendocrine, skeletal, developmental, and behavioral disorders, among other manifestations. Some variants in the SH2B1 gene have been suggested as strong candidates for the development of autosomal dominant obesity.
Case Presentation: We describe here the clinical response after 1 year of setmelanotide treatment in a 22-year-old patient with an SH2B1 variant.