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Biochemistry · Thyroid hormone synthesis: thyroid peroxidase
Sample itemA neonate has a goitre, high TSH and low T4. A radioiodine uptake study is high, and giving perchlorate releases most of the trapped iodine from the gland. Which enzyme defect is the commonest cause of this dyshormonogenesis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Thyroid peroxidase
A positive perchlorate discharge test means iodide is trapped but not organified, which places the defect at oxidation and incorporation. Lack of the peroxidase is the commonest cause of this dyshormonogenesis. A defect of the symporter would show poor uptake from the start.
Option by option
A. Iodotyrosine deiodinase
Iodotyrosine deiodinase defects cause loss of iodide in urine with a different discharge pattern.
B. Thyroglobulin synthesis
A thyroglobulin synthesis defect does not stop iodide organification, so it does not typically give a positive perchlorate discharge.
C. Sodium-iodide symporter
Symporter defects show low uptake and no iodide concentration in the gland.
D. Thyroid peroxidase (correct)
Correct. Iodide is trapped but not organified, the signature of a peroxidase defect.
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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