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Syndromes of Resistance to Thyroid Hormone: Clinical Aspects

  • Deborah Mannavola
  • Paolo Beck-Peccoz
Part of the Endocrine Updates book series (ENDO, volume 22)

Abstract

Resistance to thyroid hormone (RTH) is a rare syndrome caused by a molecular defect of the thyroid hormone receptor β (TRβ) leading to a decreased responsiveness of target tissues to the action of thyroid hormones. Despite of the specific biochemical presentation, characterized by elevated thyroid hormone levels in the presence of detectable concentration of TSH, the resulting clinical phenotype is extremely variable. Early recognition of RTH is mandatory, since its diagnostic procedures, as well as its management and follow-up differs from that of other forms of hyperthyroidism, i.e. TSH-secreting pituitary adenoma, Graves’ disease and uni- or multinodular toxic goiter. The increasing awareness of the existence of RTH syndrome along with the introduction of ultrasensitive immunometric TSH assay led to duplicate the number of reported new cases every 5 years (Figure 1). In fact, since the first case described in 1967 (1), more than 700 individuals with RTH belonging to about 250 unrelated families have been identified up to day (2, 3). RTH patients have been described all over the world, without apparent geographical and ethnic predominance or preferential sex distribution. The use of TSH measurement, rarely associated with that of total T4, in the neonatal screening for congenital hypothyroidism does not help to understand the real prevalence of RTH, which is indirectly estimated to be around 1 in 50,000 live births (4).

Keywords

Thyroid Hormone Congenital Hypothyroidism Thyroid Hormone Receptor Thyroid Hormone Level Thyroid Hormone Action 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • Deborah Mannavola
    • 1
  • Paolo Beck-Peccoz
    • 1
  1. 1.Institute of Endocrine Sciences, Ospedale Maggiore IRCCSUniversity of MilanMilanItaly

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