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Article

A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.

The Journal of clinical endocrinology and metabolism - 1 May 1997

Collu R, Tang J, Castagné J, Lagacé G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne K A, Van Vliet G

Abstract excerpt

Isolated central hypothyroidism, characterized by insufficient TSH secretion resulting in low levels of thyroid hormones, is a rare disorder. We report a boy in whom isolated central hypothyroidism was diagnosed at 9 yr of age. Complete absence of TSH and PRL responses to TRH led us to speculate that he had an inactivating mutation of the TRH receptor gene. The patients' genomic DNA was isolated, and the entire...

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Source

Identifiers

PMID: 9141550
DOI: 10.1210/jcem.82.5.3918

Genes

TRH
PRL

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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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A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.PMID 9141550Read ↗

A Novel Mechanism for Isolated Central Hypothyroidism: Inactivating Mutations in the Thyrotropin-Releasing Hormone Receptor GeneSemantic proximity Read ↗

Congenital isolated central hypothyroidism: Novel mutations and their functional implications.Semantic proximity Read ↗

Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.Semantic proximity Read ↗

A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital HypothyroidismSemantic proximity Read ↗

[Congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene].Semantic proximity Read ↗

Mutations in IRS4 are associated with central hypothyroidism.Semantic proximity Read ↗

Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated HyperthyrotropinemiaSemantic proximity Read ↗

Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.Semantic proximity Read ↗

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Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.Semantic proximity Read ↗

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