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Article

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

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

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

Abstract excerpt

Here, we describe three cases of loss-of-function mutations in the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase (NOX) domain of dual oxidase 2 (DUOX2) occurring along with concurrent missense mutations in thyroid peroxidase (TPO), leading to transient congenital hypothyroidism (CH). Three Japanese boys with nonconsanguineous parents were diagnosed with CH during their neonatal screenings. All...

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Source

Identifiers

PMID: 26565538
DOI: 10.1515/jpem-2014-0479

Genes

DUOX2
TPO

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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Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2.PMID 26565538Read ↗

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