Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis

Paolo Beck-Peccoz, Luca Persani, Davide Calebiro, Marco Bonomi, Deborah Mannavola, Irene Campi

Research output: Contribution to journalArticlepeer-review

Abstract

Forty years have elapsed since the first description of a syndrome of resistance in the hypothalamic-pituitary-thyroid axis, i.e., resistance to thyroid hormone action. In the last two decades many other types of resistance have been discovered, including resistance to the action of thyrotropin-releasing hormone (TRH), of thyroid-stimulating hormone (TSH), and of thyroid hormones (THs); the latter can be due not only to thyroid hormone receptor defects but also to alteration in genes encoding TH-specific transporters or components involved in metabolic pathways of THs. Moreover, alteration in genes encoding for second messengers may cause forms of resistance other than those due to receptor mutations, the most important one being that of an inactivating mutation in the G-protein α-subunit leading to TSH resistance in the setting of pseudohypoparathyroidism type 1a. Recognition of these rare thyroid disorders is of great importance not only for informed genetic counselling but also for avoiding diagnostic mistakes that may lead to incorrect and potentially dangerous treatments.

Original languageEnglish
Pages (from-to)529-546
Number of pages18
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Volume20
Issue number4
DOIs
Publication statusPublished - Dec 2006

Keywords

  • deiodinases
  • MCT8
  • SECISBP2
  • thyroid hormones
  • transporter
  • TRH
  • TSH

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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