ESPE Abstracts

Keywords: Syndromic Obesity, Child, Genetics

Objective: Syndromic obesity is accompanied by dysmorphic findings, motor and mental retardation, and organ anomalies. In this study, we aimed to evaluate the patients who were followed up with a diagnosis of syndromic obesity in our clinic.

Materials and Methods: Demographic, clinical, and biochemical data of the patients followed up between 2003 and 2022 were analyzed retrospectively. Dysmorphic findings, organ anomalies, and obesity-related comorbidities were recorded.

Results: The study included 20 patients. Eight (40%) of them were female, and 12 (60%) were male, with a median age of 4 years (1-13.5) at presentation and 11.9 years (3-21.1) at the last follow-up. There was a family history of obesity in 25% and consanguinity between parents in 50% of patients. The median value of body mass index (BMI) SDS at presentation was 2.6 (-0.72-4.9). Fourteen (70%) patients had hyperphagia. In terms of syndrome diagnosis, Prader-Willi Syndrome (PWS), Bardet-Biedel Syndrome (BBS), and Alström Syndrome (AS) were found in 8, 6, and 1 patients, respectively. Disease-associated variants were identified in the CPE gene of 2 patients with BDV syndrome, SETD2 gene in 1 patient with Luscan-Lumish syndrome, MAGEL2 gene in 1 patient with Schaaf-Yang syndrome and SMAD4 gene in 1 patient with Mhyre syndrome. In patients with PWS, concomitant hepatosteatosis, hypogonadism, cardiomyopathy, tricuspid insufficiency, attention deficit hyperactivity disorder (ADHD), and epilepsy were all present. Patients with BBS had retinitis pigmentosa, optic atrophy, grade 1 hydronephrosis, cholelithiasis, hepatosteatosis, and hypertension, and one patient had phenylketonuria. Patient with AS had optic atrophy, sensorineural hearing loss, hepatosteatosis, hypertension, type 2 diabetes, and hypergonadotropic hypogonadism. Two patients with variants in the CPE gene and considered as BDV syndrome both had central hypothyroidism, with one also having hypoxic-ischemic encephalopathy. The patient with Luscan-Lumish syndrome with SETD2 variant had autism. The patient with Schaaf-Yang syndrome with MAGEL2 gene variant had ADHD, type 2 diabetes mellitus, and hepatosteatosis. The patient with Mhyre syndrome with a variant in the SMAD4 gene had prococious puberty and hepatosteatosis.

Conclusions: Additional dysmorphic features should be considered for the differential diagnosis of syndromic obesity. A confirmed genetic diagnosis will offer higher-quality family counseling and more effective treatment protocols in suspected cases.