ESPE Abstracts

Background: We have identified a novel tandem duplication leading to ubiquitous expression of the agouti-signaling protein (ASIP) in a female patient with severe early onset obesity, red hair, tall stature, and insulin resistance (Kempf, E. et al, 2022). Due to the ectopic expression, ASIP - which normally is only expressed in the skin - can interact with the Melanocortin-4-Receptor receptor in the hypothalamus thereby causing the obesity phenotype. <p cla...

Background: The prevalence of childhood and adulthood obesity as a chronic condition is rising worldwide with comorbidities and impairment of psychosocial development starting already early in life. The transition from adolescence to adulthood is a vulnerable period for young individuals with chronic conditions, yet the transition of children with obesity remains poorly studied. We aimed to characterize the transition of children with overweight/obesity from a...

Background/Objectives: Obesity poses a major public health concern. Although studies estimate that the heritability of BMI lies around 40–50%, the underlying genetics are still poorly understood. In monogenic obesity, solitary genetic variations significantly increase obesity risk. We therefore aim to (1) report the diagnostic yield of monogenic obesity using exome-wide data in a large cohort of over 500 individuals and aim to (2) improve future diagnost...