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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma

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Volume 29, Issue 1


Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism

Erik Artur Cortinhas Alves
  • Corresponding author
  • Department of Morphology and Physiological Sciences of Pará State University, Belém/PA, Brazil
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Raissa Coelho Andrade
  • Inborn Errors of Metabolism Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém/PA, Brazil
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Carlos Eduardo de Melo Amaral
  • Inborn Errors of Metabolism Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém/PA, Brazil
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Milena Coelho Fernandes Caldato / Adriana Maria Rocha Bastos / Luiz Carlos Santana da Silva
  • Inborn Errors of Metabolism Laboratory, Institute of Biological Sciences, Federal University of Pará, Belém/PA, Brazil
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2015-09-10 | DOI: https://doi.org/10.1515/jpem-2015-0130


Primary congenital hypothyroidism (PCH) has an incidence of approximately 1 in each 3000–4000 live births. In the last two decades, nearly 50 types of the distinct inactivating mutations have already been described in the coding region of the tshr gene. The aim of present study was to investigate tshr gene mutations in patients with primary congenital hypothyroidism, analyzing a sample of 106 patients that were diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSH receptor were automatically sequenced. Five nucleotide alterations (P52T, N187N, A459A, L645L, and D727E. N187N and D727E polymorphisms) were associated with positive medical history. In view of the clinical, biochemical and molecular heterogeneity of the etiology of the PCH, the study of polymorphisms is critical for investigating the possible associations with prevailing symptoms of this disorder.

Keywords: congenital hypothyroidism; polymorphisms; thyroid dysgenesis; thyroid-stimulating hormone receptor (TSHR)


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About the article

Corresponding author: Erik Artur Cortinhas Alves, Department of Morphology and Physiological Sciences of Pará State University, Belém/PA, Brazil, CEP: 66810-080, Phone: +55-91-3201-8030; and Departamento de Morfologia e Ciências Fisiológicas da Universidade do Estado do Pará, Belém/PA, Brasil, E-mail:

Received: 2015-03-24

Accepted: 2015-08-03

Published Online: 2015-09-10

Published in Print: 2016-01-01

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 29, Issue 1, Pages 71–76, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0130.

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