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

Authors :
Claudia Viggiano
Gianluca Lista
Valeria Calcaterra
Luigina Spaccini
Rossella Lamberti
Gian Vincenzo Zuccotti
Sara Gatto
Source :
Pediatric Reports, Vol 13, Iss 29, Pp 210-215 (2021), Pediatric Reports
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 :
29
Database :
OpenAIRE
Journal :
Pediatric Reports
Accession number :
edsair.doi.dedup.....1f833724f105c0dfa36b1817b3dc29c5