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Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
- 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.
- Subjects :
- medicine.medical_specialty
endocrine system
Goiter
endocrine system diseases
medicine.medical_treatment
030209 endocrinology & metabolism
Case Report
Thyroid function tests
Pediatrics
RJ1-570
congenital goiter
03 medical and health sciences
0302 clinical medicine
Thyroid dyshormonogenesis
primary congenital hypothyroidism
newborn
030225 pediatrics
Internal medicine
medicine
biology
medicine.diagnostic_test
business.industry
Primary hypothyroidism
Pendrin
medicine.disease
thyroid dyshormonogenesis
Thyroid disorder
Endocrinology
Transgender hormone therapy
biology.protein
Medicine
Thyroglobulin
business
Subjects
Details
- Language :
- English
- ISSN :
- 20367503
- Volume :
- 13
- Issue :
- 29
- Database :
- OpenAIRE
- Journal :
- Pediatric Reports
- Accession number :
- edsair.doi.dedup.....1f833724f105c0dfa36b1817b3dc29c5