Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH

We report a case of congenital hypothyroidism (CH) with neurological and respiratory alterations due to a heterozygotic c.374-1G > A mutation of TITF1/NKX2-1. The hypothyroidism was detected using a neonatal screening protocol in which the thyroid stimulating hormone (TSH) threshold is re-set eac...

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Autores principales: Barreiro, Jesús, Alonso-Fernândez, Jóse Ramón, Castro-Feijoo, Lidia, Colón, Cristóbal, Cabanas, Paloma, Heredia, Claudia, Castaño, Luis Antonio, Gómez-Lado, Carmen, Couce, M.Luz, Pombo, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2011
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245495/
https://www.ncbi.nlm.nih.gov/pubmed/22155464
http://dx.doi.org/10.4274/jcrpe.448
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author Barreiro, Jesús
Alonso-Fernândez, Jóse Ramón
Castro-Feijoo, Lidia
Colón, Cristóbal
Cabanas, Paloma
Heredia, Claudia
Castaño, Luis Antonio
Gómez-Lado, Carmen
Couce, M.Luz
Pombo, Manuel
author_facet Barreiro, Jesús
Alonso-Fernândez, Jóse Ramón
Castro-Feijoo, Lidia
Colón, Cristóbal
Cabanas, Paloma
Heredia, Claudia
Castaño, Luis Antonio
Gómez-Lado, Carmen
Couce, M.Luz
Pombo, Manuel
author_sort Barreiro, Jesús
collection PubMed
description We report a case of congenital hypothyroidism (CH) with neurological and respiratory alterations due to a heterozygotic c.374-1G > A mutation of TITF1/NKX2-1. The hypothyroidism was detected using a neonatal screening protocol in which the thyroid stimulating hormone (TSH) threshold is re-set each day on the basis of within-day variability and between-day variation. In this case, the threshold on the day of the initial analysis was 8.2 mIU/L, and the measured TSH level in heel-prick blood was 8.3 mIU/L. Conflict of interest:None declared.
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spelling pubmed-32454952011-12-29 Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH Barreiro, Jesús Alonso-Fernândez, Jóse Ramón Castro-Feijoo, Lidia Colón, Cristóbal Cabanas, Paloma Heredia, Claudia Castaño, Luis Antonio Gómez-Lado, Carmen Couce, M.Luz Pombo, Manuel J Clin Res Pediatr Endocrinol Case Reports We report a case of congenital hypothyroidism (CH) with neurological and respiratory alterations due to a heterozygotic c.374-1G > A mutation of TITF1/NKX2-1. The hypothyroidism was detected using a neonatal screening protocol in which the thyroid stimulating hormone (TSH) threshold is re-set each day on the basis of within-day variability and between-day variation. In this case, the threshold on the day of the initial analysis was 8.2 mIU/L, and the measured TSH level in heel-prick blood was 8.3 mIU/L. Conflict of interest:None declared. Galenos Publishing 2011-12 2011-12-06 /pmc/articles/PMC3245495/ /pubmed/22155464 http://dx.doi.org/10.4274/jcrpe.448 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Barreiro, Jesús
Alonso-Fernândez, Jóse Ramón
Castro-Feijoo, Lidia
Colón, Cristóbal
Cabanas, Paloma
Heredia, Claudia
Castaño, Luis Antonio
Gómez-Lado, Carmen
Couce, M.Luz
Pombo, Manuel
Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH
title Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH
title_full Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH
title_fullStr Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH
title_full_unstemmed Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH
title_short Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH
title_sort congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for tsh
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245495/
https://www.ncbi.nlm.nih.gov/pubmed/22155464
http://dx.doi.org/10.4274/jcrpe.448
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