P-353: From metabolic imbalance to clinical control: a new strategy in Prader-Willi syndrome
S de Loredo, A Correa Barovero, L Garraza, L Vallejo, K FuentesAbstract
Introduction
Prader-Willi syndrome is a genetic disorder characterized by hypotonia and early-onset hyperphagia, with a high risk of metabolic complications, including type 2 diabetes.
Weight loss management in these patients represents a clinical challenge, as lifestyle-based interventions are often insufficient. In this context, new therapeutic strategies have emerged, including GLP-1 receptor agonists, which have demonstrated benefits in metabolic control, weight reduction, and appetite suppression.
Objectives
Describe a novel therapeutic approach that improved metabolic parameters and clinical outcomes in Prader Willi Syndrome
Methods
Descriptive case report.
Results
We present the case of a 12-year-old female patient with a history of Prader-Willi syndrome associated with severe obesity (weight 75 kg, height 1.38 m, BMI 39.4 kg/m2) and type 2 diabetes. Initial laboratory evaluation at the start of follow-up showed an HbA1c of 8.5% and a fasting blood glucose level of 115 mg/dL (HbA1c in 2024: 6.6%). Treatment was initiated with a GLP-1 receptor agonist (semaglutide 0.5 mg once weekly) in combination with metformin 750 mg/day, and continuous glucose monitoring using a sensor was requested. Five months after treatment initiation, a 2 kg weight loss was observed, accompanied by reduced appetite. Laboratory results showed an HbA1c of 6.8%, consistent with the continuous glucose monitoring data from the 30 days prior to the visit: TIR 87%, TAR (181–250 mg/dL): 4%, TAR (>250 mg/dL): 2%, TBR (54–69 mg/dL): 5%, and TBR (<54 mg/dL): 2%, with an estimated HbA1c of 6.2%.
Conclusions
This case demonstrates the potential benefit of GLP-1 receptor agonists in a pediatric patient with Prader-Willi syndrome, severe obesity, and type 2 diabetes, showing favorable clinical, metabolic, and weight-related outcomes. Therefore, this therapy could be considered a therapeutic option for this population as part of a comprehensive, multidisciplinary approach.