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Article

High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2016

Matsuo Kumihiro, Tanahashi Yusuke, Mukai Tokuo, Suzuki Shigeru, Tajima Toshihiro, Azuma Hiroshi, Fujieda Kenji

Abstract excerpt

BACKGROUND: Dual oxidase 2 (DUOX2) mutations are a cause of dyshormonogenesis (DH) and have been identified in patients with permanent congenital hypothyroidism (PH) and with transient hypothyroidism (TH). We aimed to elucidate the prevalence and phenotypical variations of DUOX2 mutations. METHODS: Forty-eight Japanese DH patients were enroled and analysed for sequence variants of DUOX2, DUOXA2, and TPO using...

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Source

Identifiers

PMID: 27166716
DOI: 10.1515/jpem-2015-0400

Genes

DUOX2
TPO
DUOXA2

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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