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Monogenic obesity — SCE Endocrinology MCQ

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HardObesity/LipidMonogenic obesitySCE Endocrinology

A 22-year-old woman has severe early-onset obesity, hyperphagia and red hair. Genetic testing shows biallelic POMC deficiency. What is the underlying pathophysiology?

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Correct answer: C — Impaired melanocortin-4 receptor pathway signalling

POMC deficiency disrupts melanocortin signalling, causing hyperphagia and severe early-onset obesity. Red hair and adrenal insufficiency may occur because POMC-derived peptides include ACTH and melanocyte-stimulating hormones. These rare monogenic obesities require specialist care.

Reference: Endocrine Society Paediatric Obesity Guideline