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Article

Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.

Thyroid : official journal of the American Thyroid Association - 1 Mar 2015

Tenenbaum-Rakover Yardena, Almashanu Shlomo, Hess Ora, Admoni Osnat, Hag-Dahood Mahameed Ahmad, Schwartz Naama, Allon-Shalev Stavit, Bercovich Dani, Refetoff Samuell

Abstract excerpt

BACKGROUND: Loss-of-function mutations in the thyrotropin receptor (TSHR) gene lead to resistance to TSH (RTSH) presenting with either congenital hypothyroidism (CH) or subclinical hypothyroidism (SCH). Despite several reports of patients with TSHR mutations, data on the long-term outcome of this condition are limited, and no consensus exists on the need for hormone replacement therapy. The aim of the present...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25557138
DOI: 10.1089/thy.2014.0311
PMCID: PMC4361004

Genes

TSHR

Variants

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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