Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

Lotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, Mieke H.T.M. Jongejan, Annelies E. Brandsma, Jenny A. Visser, Elisabeth F.C. van Rossum, Bert van der Zwaag, Mariëlle Alders, Elles M.J. Boon, Mieke M. van Haelst, Erica L.T. van den Akker*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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BACKGROUND: Underlying medical causes of obesity (endocrine disorders, genetic obesity disorders, cerebral or medication-induced obesities) are thought to be rare. Even in specialized pediatric endocrinology clinics, low diagnostic yield is reported, but evidence is limited. Identifying these causes is vital for patient-tailored treatment.

OBJECTIVES: To present the results of a systematic diagnostic workup in children and adolescents referred to a specialized pediatric obesity center.

METHODS: This is a prospective observational study. Prevalence of underlying medical causes was determined after a multidisciplinary, systematic diagnostic workup including growth charts analysis, extensive biochemical and hormonal assessment and genetic testing in all patients.

RESULTS: The diagnostic workup was completed in n = 282 patients. Median age was 10.8 years (IQR 7.7-14.1); median BMI +3.7SDS (IQR +3.3-+4.3). In 54 (19%) patients, a singular underlying medical cause was identified: in 37 patients genetic obesity, in 8 patients cerebral and in 9 patients medication-induced obesities. In total, thirteen different genetic obesity disorders were diagnosed. Obesity onset <5 years (p = 0.04) and hyperphagia (p = 0.001) were indicators of underlying genetic causes, but only in patients without intellectual disability (ID). Patients with genetic obesity with ID more often had a history of neonatal feeding problems (p = 0.003) and short stature (p = 0.005). BMI-SDS was not higher in patients with genetic obesity disorders (p = 0.52). Patients with cerebral and medication-induced obesities had lower height-SDS than the rest of the cohort.

CONCLUSIONS: To our knowledge, this is the first study to report the results of a systematic diagnostic workup aimed at identifying endocrine, genetic, cerebral or medication-induced causes of pediatric obesity. We found that a variety of singular underlying causes were identified in 19% of the patients with severe childhood obesity. Because of this heterogeneity, an extensive diagnostic approach is needed to establish the underlying medical causes and to facilitate disease-specific, patient-tailored treatment.

Original languageEnglish
Article numbere0232990
Number of pages22
JournalPLoS ONE
Issue number5
Publication statusPublished - May 2020


  • Adolescent
  • Ambulatory Care Facilities
  • Brain Diseases/complications
  • Child
  • Child, Preschool
  • Drug-Related Side Effects and Adverse Reactions/diagnosis
  • Endocrine System Diseases/complications
  • Female
  • Genetic Testing
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability/complications
  • Male
  • Netherlands
  • Pediatric Obesity/diagnosis
  • Phenotype
  • Prospective Studies


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