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Article

New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.

Endocrine development - 1 Jan 2007

Moreno José C, Visser Theo J

Abstract excerpt

Hydrogen peroxide (H(2)O(2)) is an essential compound for the synthesis of thyroid hormone. Its presence in the follicular lumen is required by thyroperoxidase for the iodination of tyrosil residues of thyroglobulin, the initial step in the synthesis of T(3) and T(4). The biochemical requirement of H(2)O(2) for thyroid hormone production has been known for decades and an H(2)O(2)-generating system was predicted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17684392
DOI: 10.1159/000106822

Genes

DUOX2
DUOX1
DUOXA2

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.PMID 17684392Read ↗

Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidismSemantic proximity Read ↗

A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.Semantic proximity Read ↗

Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism.Semantic proximity Read ↗

Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.Semantic proximity Read ↗

DUOXS defects: Genotype-phenotype correlations.Semantic proximity Read ↗

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.Semantic proximity Read ↗

High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.Semantic proximity Read ↗

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.Semantic proximity Read ↗

Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2.Semantic proximity Read ↗

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.Semantic proximity Read ↗

The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Semantic proximity Read ↗

Mice deficient in dual oxidase maturation factors are severely hypothyroid.Semantic proximity Read ↗

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