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Proopiomelanocortin deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Proopiomelanocortin deficiency

Proopiomelanocortin (POMC) deficiency is a rare genetic condition characterized by severe early-onset obesity, adrenal insufficiency, and often distinctive features like red hair and pale skin.

Overview

Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.

Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.

Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (glucose), known as hypoglycemia. Adrenal insufficiency may also cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilir

Frequently Asked Questions

Implement a structured meal plan with small, frequent, balanced meals that are low in simple sugars and high in protein and fiber to promote satiety. Use a food diary to track intake and identify triggers for overeating. Consider behavioral therapy or a registered dietitian experienced in pediatric obesity to develop strategies for portion control and mindful eating. Regular physical activity—short, enjoyable sessions like walking or dancing—can also help manage weight.
Watch for sudden fatigue, dizziness, low blood pressure, nausea, vomiting, or confusion. If you suspect an adrenal crisis—especially after illness or stress—administer an emergency dose of hydrocortisone (usually 100 mg IM) and seek immediate medical care. Keep a written emergency plan and carry a medical alert card with your child’s diagnosis and treatment instructions.
Because of early‑onset obesity, patients are at increased risk for insulin resistance, type 2 diabetes, hypertension, and dyslipidemia. Schedule annual metabolic panels (fasting glucose, HbA1c, lipid profile), blood pressure checks, and weight monitoring. Early lifestyle interventions—diet, exercise, and weight management—are critical to reduce long‑term complications.===
Glucocorticoid replacement therapy (e.g., hydrocortisone or prednisone) is the mainstay to address adrenal insufficiency. Some patients may benefit from mineralocorticoid replacement (fludrocortisone) if blood pressure or electrolyte imbalances occur. For obesity, there is no approved drug that directly corrects the underlying POMC pathway, but appetite‑suppression agents like phentermine can be considered under close medical supervision.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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