thyroid dyshormonogenesis 1

thyroid dyshormonogenesis 1

An 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.

Molecular pathology
Defects of SLC5A5, which encodes a sodium-iodide cotransporter that mediates iodide uptake in the thyroid, cause thyroid dyshormonogenesis 1.