Medical Emergencies · single question
A 12-17 year old girl presents with bilateral jaw/face swelling, elevated TSH, low T3 and T4, and is half the normal height for her age. The MOST likely diagnosis is:
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Correct answer: A. Cretinism
- A. Correct. Cretinism (congenital/severe childhood hypothyroidism) presents with: short stature (dwarfism), intellectual disability, coarse facial features, and bilateral facial/jaw puffiness. The laboratory findings — elevated TSH, low T3/T4 — confirm hypothyroidism. The key distinction from cherubism is the thyroid hormone profile and short stature.
- B. Cherubism has bilateral jaw swelling (multilocular radiolucencies) but is autosomal dominant and does NOT involve thyroid abnormalities or short stature.
- C. Fibrous dysplasia causes bone swelling but is not associated with thyroid hormone abnormalities.
- D. Acromegaly (excess growth hormone in adults) causes enlargement of extremities and facial features — not short stature or thyroid abnormalities.
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