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Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene

Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysi...

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Autores principales: Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Gatto, Sara, Spaccini, Luigina, Lista, Gianluca, Zuccotti, Gianvincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163152/
https://www.ncbi.nlm.nih.gov/pubmed/34063177
http://dx.doi.org/10.3390/pediatric13020029
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author Calcaterra, Valeria
Lamberti, Rossella
Viggiano, Claudia
Gatto, Sara
Spaccini, Luigina
Lista, Gianluca
Zuccotti, Gianvincenzo
author_facet Calcaterra, Valeria
Lamberti, Rossella
Viggiano, Claudia
Gatto, Sara
Spaccini, Luigina
Lista, Gianluca
Zuccotti, Gianvincenzo
author_sort Calcaterra, Valeria
collection PubMed
description Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysis via next generation sequencing (NGS) was performed finding two mutations associated with thyroid dyshormonogenesis: c.7813 C > T, homozygous in the exon 45 of the thyroglobulin gene (TG) and c.1682 G > A heterozygous in exon 15 of the SLC26A4 gene (pendrin). Sanger sequencing of parents’ DNA samples revealed that the first mutation (c.7813 C > T) was inherited from both of them, while the second one (c.1682 G > A) was inherited from the mother. Hormone replacement therapy was started, following which a gradual decrease in the size of the goiter was seen with the normalization of hormonal levels. Normal infant growth status and neurological development were recorded during follow-up. Neonatal dyshormonogenetic goiter with hypothyroidism may represent an unusual cause of neonatal neck mass. Early identification and hormone replacement therapy are crucial for a better neurodevelopmental outcome. Genetic analysis is mandatory in order to reach a specific diagnosis and to elucidate new patterns of thyroid disorder.
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spelling pubmed-81631522021-05-29 Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene Calcaterra, Valeria Lamberti, Rossella Viggiano, Claudia Gatto, Sara Spaccini, Luigina Lista, Gianluca Zuccotti, Gianvincenzo Pediatr Rep Case Report Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysis via next generation sequencing (NGS) was performed finding two mutations associated with thyroid dyshormonogenesis: c.7813 C > T, homozygous in the exon 45 of the thyroglobulin gene (TG) and c.1682 G > A heterozygous in exon 15 of the SLC26A4 gene (pendrin). Sanger sequencing of parents’ DNA samples revealed that the first mutation (c.7813 C > T) was inherited from both of them, while the second one (c.1682 G > A) was inherited from the mother. Hormone replacement therapy was started, following which a gradual decrease in the size of the goiter was seen with the normalization of hormonal levels. Normal infant growth status and neurological development were recorded during follow-up. Neonatal dyshormonogenetic goiter with hypothyroidism may represent an unusual cause of neonatal neck mass. Early identification and hormone replacement therapy are crucial for a better neurodevelopmental outcome. Genetic analysis is mandatory in order to reach a specific diagnosis and to elucidate new patterns of thyroid disorder. MDPI 2021-05-02 /pmc/articles/PMC8163152/ /pubmed/34063177 http://dx.doi.org/10.3390/pediatric13020029 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Calcaterra, Valeria
Lamberti, Rossella
Viggiano, Claudia
Gatto, Sara
Spaccini, Luigina
Lista, Gianluca
Zuccotti, Gianvincenzo
Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
title Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
title_full Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
title_fullStr Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
title_full_unstemmed Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
title_short Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
title_sort neonatal dyshormonogenetic goiter with hypothyroidism associated with novel mutations in thyroglobulin and slc26a4 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163152/
https://www.ncbi.nlm.nih.gov/pubmed/34063177
http://dx.doi.org/10.3390/pediatric13020029
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