thyroid dyshormonogenesis 1(redirected from iodine accumulation, transport or trapping defect)
thyroid dyshormonogenesis 1An endocrinopathy (OMIM:274400) characterised by the inability of the thyroid to maintain a concentration gradient of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.
Defects of SLC5A5, which encodes a sodium-iodide cotransporter that mediates iodide uptake in the thyroid, cause thyroid dyshormonogenesis 1.
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