Research

Hormonal

Genetic mutations in the Melanocortin-4 Receptor (MC4R) are a common cause of severe childhood and adult obesity, resulting in hyperphagia and increased fat and lean mass.

If you have severe obesity starting in childhood, ask about genetic testing for MC4R mutations. This is a known genetic cause affecting up to 5% of severe cases. Understanding this can guide medical treatment, as standard weight loss advice may be less effective without addressing the specific receptor dysfunction.

StrongSupportsVERY_HIGH confidence
MC4R mutations are responsible for up to 5% of cases of severe childhood obesity and between 0.5% and 2.5% of adult obesity... The phenotypic features of MC4R deficiency include hyperphagia, an increase in fat and lean mass, and an increase in bone mineral density.
Anthony P. Coll et al. · Cell · 2007

Why this rating

Strong genetic evidence from multiple studies cited (Coll et al., 2004; Hinney et al., 2006; Larsen et al., 2005).

Source

The Hormonal Control of Food Intake

Anthony P. Coll et al. · Cell · 2007

DOI 10.1016/j.cell.2007.04.001

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DOI resolved against Crossref · corpus check 2026-06-10

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