ESPE Abstracts

Objective: Obesity is a multifactorial genetic disorder. Monogenic obesity, explaining 5-13% of early-onset cases, is often associated with hyperphagia and reduced energy expenditure. Syndromic obesity involves additional clinical features such as developmental delay, hypogonadism, and sensorial hearing deficits. This study aims to enhance the understanding and management of patients with syndromic obesity by evaluating their anthropometric, laboratory, and clinical characteristics.

Methods: Patients with syndromic obesity followed for at least one year were included. Cross-sectional assessments of anthropometric measurements and laboratory tests were conducted. Hyperphagia was assessed using the Dyken et al. (2007) hyperphagia questionnaire, and physical activity was measured with the PAQ-C score. Demographic data were retrospectively collected from patient records.

Results: The study included 14 patients (8 with Bardet-Biedl Syndrome (BBS), 5 with Prader-Willi Syndrome (PWS), 1 with Alström Syndrome (AS)), with an average follow-up of 4.61 ± 3.48 years. Males constituted 78% of the cohort. Consanguinity was present in 46% of the patients, and 42% had first-degree relatives with obesity. Acanthosis nigricans was the most common clinical finding (41.7%). All PWS patients were hypotonic at birth, and one had short stature, with two receiving growth hormone therapy. BBS patients showed features such as polydactyly, syndactyly, retinitis pigmentosa, and hydronephrosis. Initial body mass index (BMI) standard deviation score (SDS) was significantly higher in BBS compared PWS patients, but last visit measurements were similar. Fasting glucose, HOMA-IR, and triglyceride levels were significantly higher in BBS patients, while hyperphagia and PAQ-C scores were similar across groups.

Conclusion: PWS patients exhibited lower initial weight and BMI SDS compared to BBS patients, but final values were similar, indicating later onset weight gain in PWS. Elevated hyperphagia scores in both groups suggest a role of eating disorders in the pathogenesis. Higher fasting glucose, HOMA-IR, and triglyceride levels in BBS patients may reflect distinct pathogenetic mechanisms of this ciliopathy. These findings highlight the importance of genetic diagnosis and a multidisciplinary approach in the effective management of syndromic obesity.