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

Authors :
Valeria Calcaterra
Rossella Lamberti
Claudia Viggiano
Sara Gatto
Luigina Spaccini
Gianluca Lista
Gianvincenzo Zuccotti
Source :
Pediatric Reports, Vol 13, Iss 2, Pp 210-215 (2021)
Publication Year :
2021
Publisher :
MDPI AG, 2021.

Abstract

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.

Details

Language :
English
ISSN :
20367503
Volume :
13
Issue :
2
Database :
Directory of Open Access Journals
Journal :
Pediatric Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.b03b858bac0d40bdb5ae4967b118142a
Document Type :
article
Full Text :
https://doi.org/10.3390/pediatric13020029