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1-4 of 4
Keywords: Dyshormonogenesis
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Journal Articles
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population
Available to PurchaseAsodu Sandeep Sarma, Ankush Desai, Madhava Rao, Jaya Prakash Sahoo, Channabasappa Shivaprasad, Prajnya Ranganath, Pragna Lakshmi, Lorraine D’Sa, Ashwin Dalal
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr 1–9.
Published Online: 18 July 2024
...Asodu Sandeep Sarma; Ankush Desai; Madhava Rao; Jaya Prakash Sahoo; Channabasappa Shivaprasad; Prajnya Ranganath; Pragna Lakshmi; Lorraine D’Sa; Ashwin Dalal Introduction: Thyroid dyshormonogenesis (TDH) is a subgroup of congenital hypothyroidism with recessive inheritance resulting from disease...
Journal Articles
The Role of 123 I Imaging in the Evaluation of Infants with Mild Congenital Hypothyroidism
Available to Purchase
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2015) 83 (2): 94–101.
Published Online: 16 December 2014
... collected included 4- and 24-hour 123 I uptake, TSH, free T 4 /total T 3 at imaging, age at imaging, and levothyroxine ( L -T 4 ) dose at 1 year of. Results: Thirty-six patients underwent 123 I imaging. In group 1 (n = 20, median TSH: 8.49 µIU/ml), 85% had abnormal imaging consistent with dyshormonogenesis...
Journal Articles
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands
Available to Purchase
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (4): 252–260.
Published Online: 20 September 2014
...) with a eutopic thyroid can have various etiologies: resistance to thyroid-stimulating hormone (TSH), thyroid dyshormonogenesis, and transient hypothyroidism [ 1 ]. Dyshormonogenic CH is caused by several genetic defects, including defects in thyroid peroxidase (TPO) , thyroglobulin (TG) , dual oxidase 2...
Journal Articles
Clinical Description of Infants with Congenital Hypothyroidism and Iodide Organification Defects
Available to PurchasePaolo Cavarzere, Mireille Castanet, Michel Polak, Marie-Charles Raux-Demay, Sylvie Cabrol, Jean Claude Carel, Juliane Léger, Paul Czernichow
Journal:
Hormone Research in Paediatrics
Hormone Research (2008) 70 (4): 240–248.
Published Online: 05 September 2008
... to in the content or advertisements. Congenital hypothyroidism Iodide organification defect Perchlorate discharge test Goiter Dyshormonogenesis Congenital hypothyroidism (CH) is one of the most common endocrine disorders [ 1 ]. The majority of the CH cases are related to thyroid dysgenesis (80–85...