[Slim despite a genetic predisposition for obesity--influence of environmental factors as chance? A case report].
METHODS
A 4-year-old, slightly overweight (BMI 18 kg/m2, BMI SDS 1.29 approximately 90.1 (th) percentile) and otherwise healthy girl presented with accelerated linear growth (99.6 (th) percentile) and hyperphagia due to loss of satiety feeling. These findings are consistent with melanocortin-4 receptor ( MC4R) mutations. GENETIC ANALYSIS AND DIAGNOSIS: We found the partially inactivating mutation Arg (165)Trp by direct sequencing of the MC4R coding region. Interestingly, the patient's mother is also heterozygous for this mutation, but lean (BMI 19 kg/m2).


METHODS
Carriers of MC4R mutations develop hyperphagia due to lack of satiety feeling as a result of central dysregulation. The reduction of energy intake and the encouragement of physical activity can be successful to control the body weight.


CONCLUSIONS
Early diagnosis can promote lifestyle intervention to prevent the development of obesity even in the presence of a genetic predisposition.
Institut für Biochemie, Molekulare Biochemie, Medizinische Fakultät, Universität Leipzig.
C
C
Melchior
W
W
Kiess
K
K
Dittrich
A
A
Schulz
T
T
Schöneberg
A
A
Körner
D002675:Child, Preschool; D002149:Energy Intake; D005260:Female; D006801:Humans; D006963:Hyperphagia / Q000235:genetics* / Q000517:prevention & control; D008019:Life Style; D009765:Obesity / Q000235:genetics* / Q000517:prevention & control; D010375:Pedigree; D017354:Point Mutation; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics*; D012528:Satiety Response / Q000502:physiology*
D044105:Receptor, Melanocortin, Type 4