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Resistance to thyroid hormone

V K Chatterjee1

  • 1Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK. kkc1@mole.bio.cam.ac.uk

Hormone Research
|January 1, 1997
PubMed
Summary
This summary is machine-generated.

Resistance to thyroid hormone (RTH) is a genetic disorder causing high thyroid hormone levels and reduced tissue response. Mutations in the thyroid hormone receptor beta gene lead to impaired hormone action and dominant negative effects.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Resistance to thyroid hormone (RTH) is a dominantly inherited endocrine disorder.
  • Characterized by elevated serum free thyroid hormones and unsuppressed TSH secretion.
  • Manifests as generalized resistance (GRTH) or predominant pituitary resistance (PRTH).

Purpose of the Study:

  • To review the molecular genetics and clinical features of RTH.
  • To understand the mechanisms underlying variable tissue resistance.

Main Methods:

  • Molecular genetic analyses of the thyroid hormone receptor beta gene.
  • Review of clinical features and patient data.

Main Results:

  • Diverse mutations in the thyroid hormone receptor beta gene are associated with both GRTH and PRTH.

Related Experiment Videos

  • Mutant receptors are functionally impaired and exhibit dominant negative inhibition of wild-type receptors.
  • Clinical features range from growth and developmental issues in children to goiter and cardiac symptoms in adults.

    • Conclusions:

    • RTH pathogenesis involves mutations in the thyroid hormone receptor beta gene.
    • Variable tissue resistance may be linked to receptor distribution and dominant negative activity on target genes.