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Article

Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.

The Journal of clinical endocrinology and metabolism - 1 May 2009

Tenenbaum-Rakover Yardena, Grasberger Helmut, Mamanasiri Sunee, Ringkananont Usanee, Montanelli Lucia, Barkoff Marla S, Dahood Ahmad Mahameed-Hag, Refetoff Samuel

Abstract excerpt

CONTEXT: Resistance to TSH (RTSH) is a condition of impaired responsiveness of the thyroid gland to TSH, characterized by elevated serum TSH, low or normal thyroid hormone levels, and hypoplastic or normal-sized thyroid gland. OBJECTIVES: The aim of the study was to evaluate the clinical course and the genotype-phenotype relationship of RTSH caused by two different TSH receptor (TSHR) gene mutations in a...

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Source

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Identifiers

PMID: 19240155
DOI: 10.1210/jc.2008-1938
PMCID: PMC2684469

Genes

TSHR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.PMID 19240155Read ↗

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