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Pediatric Obesity pp 153–182Cite as

Syndromic Obesity

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Part of the book series: Contemporary Endocrinology ((COE))

Abstract

While adiposity is most commonly due to excess caloric intake, it is well established that genetic mutations or chromosomal abnormalities can cause excess weight gain. The term “syndromic obesity” is used to describe obese children and adults with cognitive delay, dysmorphic features, organ-specific abnormalities, hyperphagia, and/or other signs of hypothalamic dysfunction (Nature Rev. Genet 6:221–34, 2005; Farooqi and O’Rahilly, Annu Rev. Med 56:443–58, 2005). Obesity syndromes may be inherited in either an autosomal or an X-linked pattern and can be caused by de novo genetic mutations. It is important to identify syndromic causes of obesity as they are often associated with comorbidities that require additional evaluation and treatment.

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Acknowledgments

This work was supported by the Canadian Institutes of Health Research [grant numbers 115707 and 119504] and the Stollery Children’s Hospital Foundation through the Women and Children’s Health Research Institute to AMH.

Editor’s Question

What criteria should the clinician use to distinguish children with early-onset obesity from those who they suspect may be overfed by parents or caretakers?

Authors’ Response

We suggest the following criteria to distinguish pathologic early-onset obesity from exogenous obesity:

  1. i.

    Early-onset obesity occurring prior to age 5 years.

  2. ii.

    Rapid rate of weight gain that is not attenuated by nutritional or exercise intervention.

  3. iii.

    Hyperphagia with absent satiety signals manifest as abnormal food-seeking behavior (hiding or stealing food, eating nonfood substances, eating in excess despite abdominal pain and/or vomiting).

  4. iv.

    Associated neuroendocrine abnormalities (i.e., pituitary hormone abnormalities).

  5. v.

    Associated features suggesting syndromic or monogenic obesity disorders, as described in our chapter and in Chap. 9 by Marie Pigeyre and David Meyre.

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Authors and Affiliations

  1. Department of Pediatrics, University of Rochester Medical Center, 601 Elmwood Ave, Box 690, Rochester, NY, 14642, USA

    Krystal A. Irizarry MD

  2. Department of Pediatrics, University of Alberta, 1C4 Walter C. Mackenzie Health Sciences Center, 8440 112 St NW, Edmonton, AB, T6G 2B7, Canada

    Andrea M. Haqq MD, MHS

Authors
  1. Krystal A. Irizarry MD
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  2. Andrea M. Haqq MD, MHS
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Correspondence to Andrea M. Haqq MD, MHS .

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Editors and Affiliations

  1. Duke University School of Medicine , Durham, North Carolina, USA

    Michael S. Freemark

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Irizarry, K.A., Haqq, A.M. (2018). Syndromic Obesity. In: Freemark, M. (eds) Pediatric Obesity. Contemporary Endocrinology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-68192-4_9

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