TY - JOUR
T1 - Young girl with severe early-onset obesity and hyperphagia
AU - Kleinendorst, Lotte
AU - Van Haelst, Mieke M.
AU - Van Den Akker, Erica L.T.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - childhood nutrition (paediatrics)
KW - endocrinology
KW - genetics
KW - obesity (nutrition)
KW - obesity (public Health)
UR - http://www.scopus.com/inward/record.url?scp=85029914451&partnerID=8YFLogxK
U2 - https://doi.org/10.1136/bcr-2017-221067
DO - https://doi.org/10.1136/bcr-2017-221067
M3 - Article
C2 - 28951511
SN - 1757-790X
VL - 2017
JO - BMJ Case Reports
JF - BMJ Case Reports
M1 - 221067
ER -