ESPE Abstracts

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to early-onset obesity in KFSH&RC.

Aims and objectives:

1. Identify the presence of monogenic mutations contributing to early-onset obesity in KFSH&RC.

2. Identify obesity-related complications and age of onset.

3. Effect of medical and surgical therapy on obese children.

Methods: Cross sectional retrospective cohort study was conducted at King Faisal Specialist hospital and research center. Medical charts of pediatric patients with obesity were reviewed. All clinical and molecular genetic data were collected using Excel data sheet.

Results: Among 120 obese children, 58.8% (70)were males and 41.66% (50) were females. mean age at diagnosis was 9.9 years(±4.1 years), mean BMI of 36.4 kg/m2, and mean age of obesity onset was 2.6 years. Of 85 patients who underwent genetic testing, only(51) 60 % had positive results. MC4R accounted for most of the cases in 33% (17 patients), followed by PWS gene in 15.6 % (8 patients), BBS1 in 13.7%(7 patients), TMeM38P in 5.8%(3 patients), PCSK1 in 3.9 %(2 patient), UCP3 3.9%(2 patients). The most common associated complication was OSA (37.3%) followed by HTN (21.3%), and type 2 DM (8%). The mean age of complication onset was 8 years. 9 patients (7.5%) were started on medical treatment (liraglutide or semaglutide) and Mean BMI % change was 5.8% (±3.2). 8 patients (10.6%) underwent sleeve gastrectomy surgery. Mean BMI % changes was 17.8% (±‎ 9.5) and most of them had Rebound weight gain after the first year of surgery.

Conclusion: Obesity is becoming an increasing global public health issue in Children. Saudi Arabia carries a high number of reported cases of melanocortin receptor mutation. Therefore, pediatric endocrinology assessment for monogenic forms of obesity should be considered in the presence of rapid weight gain from infancy, early-onset severe obesity and hyperphagia. Therefore, Early diagnosis and timely appropriate management are important in childhood obesity to prevent serious health problems. Also it’s important to do a genetic test to detect the genetic cause of obesity as there is a new modality of therapy specific for certain gene.