Hypothyroidism Macroglossia — MFDS Part 1 MCQ
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Correct answer: B — Hypothyroidism
The correct answer is B, hypothyroidism. Congenital hypothyroidism may present with feeding difficulty, lethargy, constipation, prolonged jaundice, an umbilical hernia and macroglossia, clinically described as an enlarged protruding tongue. Their combination makes hypothyroidism the single best answer. Hyperthyroidism is associated with increased metabolic activity rather than this pattern. Cushing syndrome causes glucocorticoid excess, with features such as growth impairment and characteristic fat distribution. Addison disease causes adrenal insufficiency, often with hypotension and pigmentation. Diabetes insipidus primarily causes polyuria and polydipsia. None of these alternative conditions characteristically causes macroglossia.
Reference: UK Health Security Agency, Laboratory guide to screening for congenital hypothyroidism in the UK, section 2.3: Symptoms and signs, updated 2024. https://www.gov.uk/government/publications/congenital-hypothyroidism-screening-laboratory-handbook/a-laboratory-guide-to-newborn-blood-spot-screening-in-the-uk-for-congenital-hypothyroidism