Congenital Iodide Transport Defect: Recent Advances and Future Perspectives

MARTIN, M; NICOLA, JP

J Clin Mol Encodrinol

iMed Pub LLC

Año: 2016

2572-5432

odide is an irreplaceable component of thyroid hormones; therefore, a key requirement for thyroid hormone synthesis is that iodide is actively accumulated in the thyroid. The ability of thyroid follicular cell to concentrate iodide relies on the functional expression of the sodium/iodide symporter (NIS) at the plasma membrane. Underscoring the significance of SIS for thyroid physiology, naturally occurring loss-of-function NIS mutations cause iodide transport defect (ITD) autosomalrecessive disorders in which iodide accumulation is severely or totally impaired, leading to dyshormonogenic congenital hypothyroidism. Up to date, sixteen different loss-of-function mutations in the gene encoding NIS have been reported. Surprisingly, marked clinical heterogeneity between patients harboring the different (or even the same) NIS mutation without a clear g