TSH resistance revisited

Satoshi Narumi, Tomonobu Hasegawa

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Genetic defects of hormone receptors are the most common form of end-organ hormone resistance. One example of such defects is TSH resistance, which is caused by biallelic inactivating mutations in the TSH receptor gene (TSHR). TSH, a master regulator of thyroid functions, affects virtually all cellular processes involving thyroid hormone production, including thyroidal iodine uptake, thyroglobulin iodination, reuptake of iodinated thyroglobulin and thyroid cell growth. Resistance to TSH results in defective thyroid hormone production from the neonatal period, namely congenital hypothyroidism. Classically, clinical phenotypes of TSH resistance due to inactivating TSHR mutations were thought to vary depending on the residual mutant receptor activity. Nonfunctional mutations in the two alleles produce severe thyroid hypoplasia with overt hypothyroidism (uncompensated TSH resistance), while hypomorphic mutations in at least one allele produce normal-sized thyroid gland with preserved hormone-producing capacity (compensated TSH resistance). More recently, a new subgroup of TSH resistance (nonclassic TSH resistance) that is characterized by paradoxically high thyroidal iodine uptake has been reported. In this article, the pathophysiology and clinical features of TSH resistance due to inactivating TSHR mutations are reviewed, with particular attention to the nonclassic form.

Original languageEnglish
Pages (from-to)393-398
Number of pages6
JournalEndocrine Journal
Volume62
Issue number5
Publication statusPublished - 2015

Fingerprint

Thyrotropin Receptors
Mutation
Thyroid Gland
Thyroglobulin
Hormones
Thyroid Hormones
Iodine
Alleles
Thyroid Dysgenesis
Genes
Congenital Hypothyroidism
Halogenation
Hypothyroidism
Phenotype
Growth

Keywords

  • Genetics
  • Mutation
  • TSH
  • TSH receptor
  • TSH resistance

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Narumi, S., & Hasegawa, T. (2015). TSH resistance revisited. Endocrine Journal, 62(5), 393-398.

TSH resistance revisited. / Narumi, Satoshi; Hasegawa, Tomonobu.

In: Endocrine Journal, Vol. 62, No. 5, 2015, p. 393-398.

Research output: Contribution to journalArticle

Narumi, S & Hasegawa, T 2015, 'TSH resistance revisited', Endocrine Journal, vol. 62, no. 5, pp. 393-398.
Narumi, Satoshi ; Hasegawa, Tomonobu. / TSH resistance revisited. In: Endocrine Journal. 2015 ; Vol. 62, No. 5. pp. 393-398.
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