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Article

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

The Journal of clinical endocrinology and metabolism - 1 Jul 2017

García Marta, González de Buitrago Jesús, Jiménez-Rosés Mireia, Pardo Leonardo, Hinkle Patricia M, Moreno José C

Abstract excerpt

Context: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of thyroid-stimulating hormone (TSH) leading to low thyroid hormone synthesis. Thyrotropin-releasing hormone (TRH) receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood. Objectives: Clinical and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Protein alpha Subunits, Gq-G11

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Source

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Identifiers

PMID: 28419241
DOI: 10.1210/jc.2016-3977
PMCID: PMC5505191

Genes

TRHR
TRH
IGSF1
TSHB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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