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Details for phenotype: generalized autosomal-recessive thyroid hormone resistance

EndoNet ID: ENP00463

Name

generalized autosomal-recessive thyroid hormone resistance

General information

This phenotype is pathologic
  • Resistance to thyroid hormone is a rare autosomal dominant disorder that results in elevated thyroid hormone levels in the presence of normal or increased serum thyroid-stimulating hormone concentrations. [1]

Links to other resources

GO
OMIM 274300
MeSH term D018382
Disease database 31913

Phenotype triggers

  • no activity (knock out experiment or RNAi) of THRB1
    in thyroid_gland
    • Acting in a dominant negative fashion, THR-β mutants cause RTH by interfering with the function of normal THRs. [2]
    • The syndrome of resistance to thyroid hormone (RTH), caused by mutations within the C terminus of TH receptor-β, is characterized by resistance to TH negative feedback at the pituitary and hypothalamus, with resulting TSH and TH elevation. [3]
    • Although most RTH mutations cause generalized resistance to TH (GRTH), such that affected individuals are euthyroid or hypothyroid despite high circulating TH levels, some RTH mutations may be clinically associated with isolated central resistance to TH (CRTH), such that peripheral sensitivity to TH action is preserved. [4]
    • TR-β mutation, which is associated with the clinical syndrome of CRTH, dissociates positive and negative gene regulation by TH in vivo. [5]
Reference