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...

hrp0082p2-d1-459 | Growth | ESPE2014

Comparison Between GH assay: serum GH Cut-off Levels by ECLIA Performed in Pharmacological Estimulation Tests in Children With Short Stature

Aguirre Cecilia , Sobrero Gabriela , Schvab Giselle , Silvano Liliana , Alvarez Julia , Ochetti Mariana , Lescurat Maria , Paez Alejandra , Munoz Liliana , Martin Silvia , Miras Mirta

Background: The diagnosis of GH deficiency in children is based on clinical, auxological, radiographic and biochemical criteria which include response to Pharmacological Estimulation Tests (PhT). It is well known that GH concentrations vary according to the assay method used. Currently in our population, the proposed cut-off value of serum GH PhT is 4.7 ng/ml measured by ICMA using the IRP 98/574.Objective and hypotheses: The aims of this study were to d...