Genetics and phenomics of hypothyroidism due to TSH resistance.

doi:10.1016/j.mce.2010.01.008

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Article

Genetics and phenomics of hypothyroidism due to TSH resistance.

Molecular and cellular endocrinology - 30 Jun 2010

Persani Luca, Calebiro Davide, Cordella Daniela, Weber Giovanna, Gelmini Giulia, Libri Domenico, de Filippis Tiziana, Bonomi Marco

Abstract excerpt

The resistance to thyrotropin (TSH) action is the disease associated with molecular defects hampering the adequate transmission of TSH stimulatory signal into thyroid cells. The defect may in principle affect every step along the cascade of events following the binding of TSH to its receptor (TSHR) on thyroid cell membranes. After the description of the first family affected with loss-of-function (LOF) TSHR...

Topics

Genotype
Humans
Hypothyroidism
Phenotype
Receptors, Thyrotropin
Thyrotropin

Source

Open in PubMed

Identifiers

PMID: 20083154
DOI: 10.1016/j.mce.2010.01.008

Genes

TSHR
GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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