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Article

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Thyroid : official journal of the American Thyroid Association - 1 May 2022

Larrivée-Vanier Stéphanie, Jean-Louis Martineau, Magne Fabien, Bui Helen, Rouleau Guy A, Spiegelman Dan, Samuels Mark E, Kibar Zoha, Van Vliet Guy, Deladoëy Johnny

Abstract excerpt

Context: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a predominantly sporadic and nonsyndromic (NS) condition of unknown etiology. NS-CHTD shows a 40-fold increase in relative risk among first-degree relatives (1 in 100 compared with a birth prevalence of 1 in 4000 in the general population), but a discordance rate between monozygotic (MZ) twins of 92%. This suggests a two-hit mechanism,...

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Identifiers

PMID: 35272499
DOI: 10.1089/thy.2021.0597
PMCID: PMC9145262

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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