Endocrine Abstracts (2011) 27 P73

Syndromic obesity

Meenal Mavinkurve1, Anne-Marie Murphy2, Rafiu Isamotu1, Sallyann Lynch3, Hadar Ahmed1 & Edna Roche2


1Department of Paediatric Endocrinology, National Children’s Hospital, AMNCH, Tallaght, Dublin 24, Ireland; 2Department of Paediatrics, Trinity College, Dublin 2, Ireland; 3National Centre for Medical Genetics, Our Lady’s Children’s Hospital Crumlin, Dublin 12, Ireland.


Aims: Childhood obesity is reaching epidemic proportions. Obesity may be primary (obesogenic environment), secondary (hormonal imbalance, drugs), monogenic (POMC) or be part of a complex phenotype-genetic obesity syndromes. It is important to distinguish between classifications. Our aim was to review our cohort of ‘obese’ patients with this in mind.

Methods: Patients referred to our Paediatric Endocrinology Service specifically for management of obesity and who ultimately and unexpectedly turned out to have a syndromic cause were identified from our database. Their case notes were reviewed. Detailed histories and physical examination findings are reported. Parental consent was requested and clinical photographs obtained in all cases. A review of paediatric, endocrinology and genetics literature was conducted in order to develop guidelines for recognising and investigating children with potential genetic obesity syndromes.

Results: We elucidated an underlying genetic pathology in six patients referred to our tertiary paediatric endocrinology service over a 2 year period from primary and secondary care for management of ‘simple’ or ‘exogenous obesity’. We recommend targeted genetic testing ± liason with a clinical geneticist in patients with obesity in addition to learning difficulties, visual/hearing/behavioural problems, dysmorphism/skeletal anomalies, marked short/tall stature/abnormal head size or epilepsy.

Conclusion: Most obesity in Irish children is exogenous in nature. However, it is important to recognise children who may have a genetic cause for their obesity. There are many genetic obesity syndromes, the most frequently encountered being Prader–Willi, Bardet–Biedl and Alstrom’s syndromes. Management is generally symptomatic and multidisplinary rather than specific. Appropriate genetic counselling should be provided.

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