Pediatria pre prax 2/2015

A rare cause of severe obesity in 4 years old boy

We report a case of boy with mutation of melanocortin receptor 4, most common cause of monogenic obesity. He is severely obesity with mild, with nonspecific complications. His mother and mother`s mother are carriers of the same mutation. We suspect that variable expression and penetrance of MC4R gene may be the reason of their phenotype.

Keywords: obesity, childhood, melanocortin receptor.