hrp0086p1-p896 | Thyroid P1 | ESPE2016

Iodide Transport Defect: Identification of a Novel Mutation in the Carboxy-terminus of the Sodium/iodide Symporter in a Pediatric Patient with Congenital Hypothyroidism

Nicola Juan Pablo , Martin Mariano , Signorino Malvina , Testa Graciela , Sobrero Gabriela , Munoz Liliana , Masini-Repiso Ana Maria , Miras Mirta

Iodide (I−) transport defect (ITD) is an autosomal recessive disorder caused by the inability of the thyroid follicular cell to actively accumulate iodide. Active I− accumulation is mediated by the Na+/I− symporter (NIS), an integral plasma membrane glycoprotein located on the basolateral surface of thyrocytes. The diagnostic criteria for ITD include a variable degree of hypothyroidism and goiter, low to absent thyr...