Medical Emergencies · single question
A young girl has bilateral mandibular swelling, elevated TSH, low T3/T4, and stature at half the normal for her age. What is the MOST likely diagnosis?
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Correct answer: D. Cretinism (congenital hypothyroidism)
- A. Incorrect. Cherubism is a hereditary condition (chromosome 4p16) causing bilateral jaw swelling — but it does not cause thyroid abnormalities or growth retardation.
- B. Incorrect. Ectodermal dysplasia causes hypodontia, sparse hair, anhidrosis, and missing/peg-shaped teeth — not thyroid abnormalities and jaw swelling.
- C. Incorrect. Pierre Robin sequence features micrognathia, glossoptosis, and cleft palate — not thyroid abnormalities.
- D. Correct. The classic triad of BILATERAL JAW SWELLING + ELEVATED TSH + LOW T3/T4 + SHORT STATURE at half the normal height = CRETINISM (congenital hypothyroidism). In cretinism, the thyroid gland fails to produce adequate hormones during development, leading to: growth retardation, mental retardation, enlarged thyroid (goiter — causing jaw/neck swelling), and characteristic facies.
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