Thyroid Hormone Synthesis Without Thyroglobulin.

doi:10.1177/10507256261429120

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Article

Thyroid Hormone Synthesis Without Thyroglobulin.

Thyroid : official journal of the American Thyroid Association - 1 Apr 2026

Young Crystal, Zhang Xiaohan, Kellogg Aaron P, Fonseca Tatiana L, Pena Kevin, Beyzin Alisa, Liao Xiao-Hui, Cicatiello Annunziata G, Zhang Hao, Bianco Antonio C, Refetoff Samuel, Arvan Peter

Abstract excerpt

BACKGROUND: Heterozygosity of genetically encoded misfolded mutant thyroglobulin (TG, the thyroid hormone protein precursor) occurs with a frequency estimated at 1-in-217 people worldwide, resulting in subclinical hypothyroidism that largely escapes medical detection. However, patients carrying biallelic TG mutation, when untreated, are frankly hypothyroid unless and until they develop a massive goiter. To date,...

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PMID: 41801750
DOI: 10.1177/10507256261429120
PMCID: PMC13184668

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