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[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].

Archivos argentinos de pediatria - 1 Jun 2017

Enacán Rosa E, Masnata María E, Belforte Fiorella, Papendieck Patricia, Olcese María C, Siffo Sofía, Gruñeiro-Papendieck Laura, Targovnik Héctor, Rivolta Carina M, Chiesa Ana E

Abstract excerpt

Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have...

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Identifiers

PMID: 28504502
DOI: 10.5546/aap.2017.e162

Genes

DUOX2
DUOX1

Variants

Provenance

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Related research

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[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].PMID 28504502Read ↗

Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.Semantic 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 ↗

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 ↗

New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.Semantic proximity Read ↗

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

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.Semantic proximity Read ↗

Transient congenital hypothyroidism - too short to be transient.Semantic proximity Read ↗

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.Semantic proximity Read ↗

Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.Semantic proximity Read ↗

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

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Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.Semantic proximity Read ↗

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