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Article

Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Nov 2008

Fuchs O, Pfarr N, Pohlenz J, Thanner F, Schmidt H

Abstract excerpt

UNLABELLED: Congenital primary hypothyroidism occurs in one out of 4,000 births. About 20% of cases are due to defects in thyroid hormonogenesis. We report on a German girl with congenital hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene who had elevated serum levels of thyroglobulin during periods of hyperthyrotropinemia. METHODS: The TPO gene was sequenced directly from genomic DNA....

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Source

Identifiers

PMID: 19189706
DOI: 10.1515/jpem.2008.21.11.1093

Genes

TPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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