P-323: Interdisciplinary team nutritional assessment and follow-UP of pediatric patients with suspected monogenic or syndromic obesity at a national hospital in Argentina
C Mougel, P P Fabio, F S Macarena, M Veronica, R Lorena, Q GabrielaAbstract
Introduction
Genetic testing enables the diagnosis of monogenic or syndromic causes of severe, early-onset childhood obesity. Early identification facilitates individualized nutritional therapies and advances precision medicine.
Objectives
To describe the clinical, anthropometric, genetic, and therapeutic characteristics of a cohort of children and adolescents with a presumptive diagnosis of monogenic or syndromic obesity.
Methods
Descriptive, observational study at Hospital Posadas (Argentina) from September 2023 to June 2026. Included patients aged 0–18 years with severe early-onset obesity (BMI > +2 SD) and hyperphagia. Evaluation by pediatric nutrition and psychology was followed by saliva-based genetic testing.
Results
34 patients were included (57.1% M, 42.9% F; median age: 110.5 months). Median BMI Z-score: 4.8; median height Z-score: 1.27. Genetic test results: pathogenic (2.9%), likely pathogenic (8.8%), indeterminate (70.5%), and negative (17.6%). Mutations were frequently detected in SDCCAG8, ALMS1, and PCSK1. Associated neurological abnormalities were present in 100% of patients, followed by hepatic and metabolic disorders. All received nutritional and physical activity guidance. Active pharmacological treatments include: Enalapril (4), psychotropic drugs (4), Liraglutide (2), Metformin (2), levothyroxine (2), and insulin (1).
Conclusions
Genetic testing and clinical suspicion are fundamental to understanding the spectrum of monogenic/syndromic obesity and guiding precision therapies. Indeterminate results add complexity to pharmacological management, though treatment may be considered case-by-case. These findings highlight the need for healthcare training and the development of interdisciplinary follow-up teams.