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APS-1 (APECED) — RACP Paediatrics MCQ

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HardEndocrineAPS-1 (APECED)RACP Paediatrics

A 10-year-old presents with chronic mucocutaneous candidiasis (oral and nail), hypoparathyroidism (hypocalcaemia), and Addison disease (hyperpigmentation, postural hypotension). AIRE gene mutation is confirmed. What is the most likely diagnosis?

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Correct answer: B — Autoimmune polyglandular syndrome type 1

The triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison disease (at least 2 of 3) is autoimmune polyglandular syndrome type 1 (APS-1, also called APECED). It is caused by AIRE gene mutations (autosomal recessive). Additional autoimmune manifestations (alopecia, vitiligo, hepatitis, keratitis) may develop over time. Lifelong surveillance for emerging endocrinopathies is required.

Reference: RACP Paediatric Curriculum – Endocrine/Immunology; RCH Melbourne – 2023