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ENT · Syndromes: Pendred syndrome
Sample itemA teenager has congenital bilateral sensorineural deafness and a diffuse goitre. Which test is used to support the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Perchlorate discharge test
Pendred syndrome is autosomal recessive and involves an organification defect, with a positive perchlorate discharge test. The inner ear often shows Mondini dysplasia or an enlarged vestibular aqueduct. Patients are usually euthyroid or mildly hypothyroid.
Option by option
A. Serum calcitonin
Calcitonin is a marker of medullary carcinoma.
B. Thyroid antibodies
Antibodies point to autoimmune thyroid disease.
C. Radioiodine scan only
A scan alone cannot show the organification defect.
D. Perchlorate discharge test (correct)
Correct. A positive perchlorate discharge test supports Pendred syndrome.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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