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Addison disease — RACP Paediatrics MCQ

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ModerateEndocrineAddison diseaseRACP Paediatrics

A 10-year-old presents with fatigue, weight loss, hyperpigmentation of the skin creases and buccal mucosa, postural hypotension, and salt craving. Morning cortisol is low, ACTH is markedly elevated. Anti-adrenal antibodies are positive. What is the most likely diagnosis?

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Correct answer: B — Primary adrenal insufficiency (Addison)

Hyperpigmentation (from elevated ACTH stimulating melanocytes), low cortisol, elevated ACTH, and positive anti-adrenal antibodies is autoimmune Addison disease (primary adrenal insufficiency). It is the most common cause of primary adrenal insufficiency in developed countries after congenital adrenal hyperplasia. Treatment is lifelong hydrocortisone ± fludrocortisone replacement with sick-day management plans.

Reference: RCH Melbourne – 2023 – Adrenal Insufficiency CPG; RACP Paediatric Curriculum – Endocrine