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APS-2 (Schmidt syndrome) — RACP Paediatrics MCQ

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ModerateEndocrineAPS-2 (Schmidt syndrome)RACP Paediatrics

A 14-year-old girl with type 1 diabetes develops fatigue, weight loss, and hyperpigmentation. She is found to have Addison disease. Anti-21-hydroxylase antibodies are positive. Thyroid function is currently normal but anti-TPO antibodies are positive. What is the most likely syndrome?

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Correct answer: B — Autoimmune polyglandular syndrome type 2

The combination of Addison disease with T1DM (with or without autoimmune thyroid disease) constitutes APS-2 (Schmidt syndrome). Unlike APS-1, it has no AIRE mutation, is polygenic, and typically presents in adolescence/adulthood. Surveillance for additional autoimmune endocrinopathies and coeliac disease is recommended.

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