Article
Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.
The Journal of clinical endocrinology and metabolism - 1 Jul 2011
Nicola Juan Pablo, Nazar Magalí, Serrano-Nascimento Caroline, Goulart-Silva Francemilson, Sobrero Gabriela, Testa Graciela, Nunes Maria Tereza, Muñoz Liliana, Miras Mirta, Masini-Repiso Ana María
Abstract excerpt
CONTEXT: Iodide transport defect (ITD) is an autosomal recessive disorder caused by impaired Na(+)/I(-) symporter (NIS)-mediated active iodide accumulation into thyroid follicular cells. Clinical manifestations comprise a variable degree of congenital hypothyroidism and goiter, and low to absent radioiodide uptake, as determined by thyroid scintigraphy. Hereditary molecular defects in NIS have been shown to cause...
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