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Article

A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Journal of clinical research in pediatric endocrinology - 7 Jun 2022

Stern Eve, Schoenmakers Nadia, Nicholas Adeline K., Kassif Eran, Hamiel Orit Pinhas, Yeshayahu Yonatan

Abstract excerpt

Congenital hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). Mutations in the thyroglobulin gene (TG) are frequently associated with goiter, which may present fetally or neonatally, although a spectrum of phenotypes is reported. We present the case of a woman of...

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Identifiers

PMID: 33832185
DOI: 10.4274/jcrpe.galenos.2021.2020.0278
PMCID: PMC9176088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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