ESPE Abstracts (2014) 82 PL6

Making a Diagnosis in Severe Complex Obesity

Sadaf Farooqi


Metabolic Research Laboratories, Wellcome Trust Senior Clinical Fellow, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK


With the rising prevalence of childhood obesity, there has been an increase in the number of children presenting with severe obesity. Whilst only a relatively small proportion of severely obese children will have the classical features associated with the well-established genetic obesity syndromes such as Prader-Willi syndrome, there is increasing recognition that highly penetrant genetic disorders can frequently present as severe obesity alone without developmental delay, dysmorphology or other distinct clinical signs. It is, therefore, important for Physicians to have a systematic approach to the assessment of these patients. The diagnosis of a genetic obesity syndrome can provide information that has diagnostic value for the family and may help children and their families deal with the social stigma that comes with severe obesity in childhood. The finding of a genetic cause for a patient’s severe obesity can in some cases lead to specific therapeutic interventions and in others, can inform Physicians as to the utility of other interventions such as bariatric surgery. The use of techniques such as whole exome sequencing has accelerated the discovery of new genes and mechanisms that are likely to explain a variety of previously unrecognized childhood obesity syndromes.

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