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congenital hypothyroidism due to genetic defects or iodine deficiency. If left untreated, these children develop mental retardation and failure to thrive, resulting in a clinical condition known for centuries as cretinism [ 1 ]. Earlier in the past century
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, Addis CJ , . Hypothyroidism in infants with congenital heart disease exposed to excess iodine . J Endocr Soc . 2017 Aug ; 1 ( 8 ): 1067 – 78 . http://dx.doi.org/10.1210/js.2017-00174 . 77 Cherella CE , Breault DT , Thaker V
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, Christ S, Heuer H, Schafer MK, Mansouri A, Bauer K, Visser TJ: Regulation of iodothyronine deiodinases in the Pax8 –/– mouse model of congenital hypothyroidism. Endocrinology 2003;144:777–784. 10.1210/en.2002-220715 59 Trajkovic-Arsic M, Visser
ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
Hospital de Braga, Braga, Portugal
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ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
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ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
ACMP5 – Associação Centro de Medicina P5 (P5), School of Medicine, University of Minho, Braga, Portugal
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ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
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ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
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Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands
The Generation R Study Group, Erasmus MC, University Medical Center, Rotterdam, the Netherlands
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ICVS/3B’s, PT Government Associate Laboratory, Braga/Guimarães, Portugal
Clinical Academic Center-Braga (2CA-B), Braga, Portugal
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of such finding and on its relationship with dosage and/or timing of initiation of iodine supplements intake. The incidence of congenital hypothyroidism in Portugal is of 1:2892 newborns and we observed only two cases of suspected congenital
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and FT4 ( 6 ). Although the relationship between iron deficiency and hypothyroidism has repeatedly been demonstrated, its association with IH has hardly been investigated. An important alternative source modulating FT4 concentrations is the human
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hamper Tg folding and are associated with ER stress and congenital hypothyroidism (CH) ( 15 , 19 ). In addition, disulfide bonds are a major inter-molecular Tg cross-link stabilizing the colloid; these reactions are likely catalysed by the internal
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Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Jinzhou Medical University, Jinzhou, People’s Republic of China
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Department of Endocrinology and Metabolism, The Third Affiliated Hospital of Jinzhou Medical University, Jinzhou, People’s Republic of China
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presented intellectual disability in childhood that resembles congenital hypothyroidism ( 6 ). Although treatment with THs leads to improvements in certain clinical phenotypes of patients with RTHα, including constipation and problems with nerve conduction
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Introduction Congenital hypothyroidism (CH) represents the most common congenital endocrine disorder in humans affecting approximately 1 of 2,000-4,000 live births [ 1 , 2 ]. The majority of CH cases are due to thyroid dysgenesis (TD), which