thyroid dyshormonogenesis 2A

thyroid dyshormonogenesis 2A

An endocrinopathy (OMIM:274500) caused by defective conversion of iodide to organically bound iodine (organification), which can be partial or complete.

Molecular pathology
Defects of TPO, which encodes a membrane-bound glycoprotein enzyme that iodinates tyrosine residues in thyroglobulin, cause thyroid dyshormonogenesis 2A.

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