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.