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Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report
Newborn screening for congenital hypothyroidism (CH) has been highly effective in preventing devastating neurodevelopmental and physical sequelae in affected infants. We report a case of an ectopic thyroid gland located in the submandibular area detected at the age of 3 months, which was missed by c...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Termedia Publishing House
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226458/ https://www.ncbi.nlm.nih.gov/pubmed/37218725 http://dx.doi.org/10.5114/pedm.2022.118322 |
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author | Stępniewska, Anna Wójcik, Małgorzata Starzyk, Jerzy B. |
author_facet | Stępniewska, Anna Wójcik, Małgorzata Starzyk, Jerzy B. |
author_sort | Stępniewska, Anna |
collection | PubMed |
description | Newborn screening for congenital hypothyroidism (CH) has been highly effective in preventing devastating neurodevelopmental and physical sequelae in affected infants. We report a case of an ectopic thyroid gland located in the submandibular area detected at the age of 3 months, which was missed by congenital hypothyroidism screening test based on twice-repeated TSH measurement in dried blood spots. The diagnosis of subclinical hypothyroidism was confirmed on the basis of blood test performed in the endocrine clinic: TSH 26.3 µIU/ml (N: < 10 µIU/ml), with FT4 14.7 pmol/l (N: 10–25 pmol/l) and fT3 6.9 pmol/l (N: 3–8 pmol/l). Ultrasonography and scintigraphy revealed ectopically located thyroid tissue in the sublingual area. In the case of doubtful results of a neonatal screening test or in any case of suspected congenital hypothyroidism, the diagnosis should be supplemented with ultrasound examination of the neonate’s neck and followed by scintigraphy if necessary. |
format | Online Article Text |
id | pubmed-10226458 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Termedia Publishing House |
record_format | MEDLINE/PubMed |
spelling | pubmed-102264582023-06-05 Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report Stępniewska, Anna Wójcik, Małgorzata Starzyk, Jerzy B. Pediatr Endocrinol Diabetes Metab Case report | Opis przypadku Newborn screening for congenital hypothyroidism (CH) has been highly effective in preventing devastating neurodevelopmental and physical sequelae in affected infants. We report a case of an ectopic thyroid gland located in the submandibular area detected at the age of 3 months, which was missed by congenital hypothyroidism screening test based on twice-repeated TSH measurement in dried blood spots. The diagnosis of subclinical hypothyroidism was confirmed on the basis of blood test performed in the endocrine clinic: TSH 26.3 µIU/ml (N: < 10 µIU/ml), with FT4 14.7 pmol/l (N: 10–25 pmol/l) and fT3 6.9 pmol/l (N: 3–8 pmol/l). Ultrasonography and scintigraphy revealed ectopically located thyroid tissue in the sublingual area. In the case of doubtful results of a neonatal screening test or in any case of suspected congenital hypothyroidism, the diagnosis should be supplemented with ultrasound examination of the neonate’s neck and followed by scintigraphy if necessary. Termedia Publishing House 2023-04-06 2023-03 /pmc/articles/PMC10226458/ /pubmed/37218725 http://dx.doi.org/10.5114/pedm.2022.118322 Text en Copyright © Polish Society of Pediatric Endocrinology and Diabetes https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), allowing third parties to download and share its works but not commercially purposes or to create derivative works. |
spellingShingle | Case report | Opis przypadku Stępniewska, Anna Wójcik, Małgorzata Starzyk, Jerzy B. Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report |
title | Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report |
title_full | Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report |
title_fullStr | Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report |
title_full_unstemmed | Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report |
title_short | Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report |
title_sort | congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report |
topic | Case report | Opis przypadku |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226458/ https://www.ncbi.nlm.nih.gov/pubmed/37218725 http://dx.doi.org/10.5114/pedm.2022.118322 |
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