This case report of an infant with severe early-onset obesity illustrates the societal condemnation of persons with obesity. In addition, it underlines the importance of diagnosing rare forms of monogenic obesity, even if no drug treatment is available. Here, we describe a 2-year-old girl with severe progressive obesity from birth onwards due to insatiable hunger. Genetic studies eventually reveal that the girl has a monogenic form of obesity caused by two mutations in the LEPR gene. No drug treatment is available (as yet) for this disease. Parents describe the stigmatic remarks they have to deal with every day. Diagnosing this rare genetic disorder was very important for understanding that satiety regulation is a complex system, of which willpower is only a small portion. In these patients, reduction of obesity can be achieved, but a different approach to lifestyle intervention is needed.

Additional Metadata
Keywords childhood nutrition (paediatrics), endocrinology, genetics, obesity (nutrition), obesity (public Health)
Persistent URL,
Journal BMJ Case Reports
Note no subscription
Kleinendorst, L. (Lotte), van Haelst, M.M, & van den Akker, E.L.T. (2017). Young girl with severe early-onset obesity and hyperphagia. BMJ Case Reports, 2017. doi:10.1136/bcr-2017-221067