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Article

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.

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

Sparling David P, Fabian Kendra, Harik Lara, Jobanputra Vaidehi, Anyane-Yeboa Kwame, Oberfield Sharon E, Fennoy Ilene

Abstract excerpt

BACKGROUND: Thyroid dyshormonogenesis continues to be a significant cause of congenital hypothyroidism. Over time, forms of thyroid dyshormonogenesis can result in goiter, which can lead to difficult management decisions as the pathologic changes can both mimic or lead to thyroid cancer. METHODS: Herein we describe the cases of two brothers diagnosed with congenital hypothyroidism, with initial findings...

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Source

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Identifiers

PMID: 26894573
DOI: 10.1515/jpem-2015-0253
PMCID: PMC4853235

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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