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Article

Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013

Yoshizawa-Ogasawara Atsuko, Ogikubo Sayaka, Satoh Mari, Narumi Satoshi, Hasegawa Tomonobu

Abstract excerpt

The dual oxidase 2 (DUOX2) mutation results in an impairment of the hydrogen peroxidase-generating system and is identified as a dyshormonogenic cause of congenital hypothyroidism (CH). Here, we describe two unrelated Japanese girls with CH due to a novel DUOX2 mutation. They had high serum thyrotropin levels and low free thyroxine/thyroxine concentrations during the neonatal period. A novel missense mutation...

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Source

Identifiers

PMID: 23457309
DOI: 10.1515/jpem-2012-0082

Genes

DUOX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene.PMID 23457309Read ↗

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