Update on resistance to thyroid hormone syndromeβ

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is characterized by a decreased response of the target tissue to thyroid hormone, increased serum levels of free triiodothyronine (FT3) and/or free thyroxine (FT4), and inappropriate secretion of thyroid-stimulating hormone (TSH, normal or elevated). Clinical manifestations of RTH-β vary from hyperthyroidism to hypothyroidism or simple goiter, and RTH-β is often misdiagnosed clinically. The present review was prepared for the purpose of expanding knowledge of RTH-β in order to reduce the rate of misdiagnosis.

Related collections

Most cited references 33

Record: found
Abstract: not found
Article: not found

Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.

S Refetoff, J DeGroot, L T DeWind (1967)

0 comments Cited 73 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: not found
Article: not found

The syndromes of resistance to thyroid hormone.

Maximilian E R Weiss, S Refetoff, Stephen J. Usala (1993)

0 comments Cited 60 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Pituitary tumours: TSH-secreting adenomas.

Paolo Beck-Peccoz, Luca Persani, Deborah Mannavola … (2009)

Thyrotropin-secreting pituitary adenomas (TSHomas) are a rare cause of hyperthyroidism and account for less than 2% of all pituitary adenomas. In the last years, the diagnosis has been facilitated by the routine use of ultra-sensitive TSH immunometric assays. Failure to recognise the presence of a TSHoma may result in dramatic consequences, such as improper thyroid ablation that may cause the pituitary tumour volume to further expand. The diagnosis mainly rests on dynamic testing, such as T3 suppression tests and TRH, which are useful in differentiating TSHomas from the syndromes of thyroid hormone resistance. The first therapeutical approach to TSHomas is the pituitary neurosurgery. The medical treatment of TSHomas mainly rests on the administration of somatostatin analogues, such as octreotide and lanreotide, which are effective in reducing TSH secretion in more than 90% of patients with consequent normalisation of FT4 and FT3 levels and restoration of the euthyroid state.

0 comments Cited 55 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Contributors

Chao Liu:

ORCID: http://orcid.org/0000-0002-5793-9305

liuchao@nfmcn.com

Journal

Journal ID (nlm-ta): Ital J Pediatr

Journal ID (iso-abbrev): Ital J Pediatr

Title: Italian Journal of Pediatrics

Publisher: BioMed Central (London )

ISSN (Electronic): 1824-7288

Publication date (Electronic): 11 November 2020

Publication date PMC-release: 11 November 2020

Publication date Collection: 2020

Volume: 46

Electronic Location Identifier: 168

Affiliations

[1 ]GRID grid.410745.3, ISNI 0000 0004 1765 1045, Endocrine and Diabetes Center, Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, ; No.100, Shizi Street, Hongshan Road, Nanjing, 210028 China

[2 ]Jiangsu Province Academy of Traditional Chinese Medicine, No.100, Shizi Street, Hongshan Road, Nanjing, 210028 China

Author information

Chao Liu http://orcid.org/0000-0002-5793-9305

Article

Publisher ID: 929

DOI: 10.1186/s13052-020-00929-x

PMC ID: 7656732

PubMed ID: 33176840

SO-VID: 2885656e-e144-4ab5-9586-23ab3595c6bb

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 4 August 2020

Date accepted : 26 October 2020

Custom metadata

ScienceOpen disciplines: Pediatrics

Keywords: thyroid hormone resistance,thyroid hormone receptor β,thyroid hormone,gene mutation,autosomal genetic disease

Data availability:

ScienceOpen disciplines: Pediatrics

Keywords: thyroid hormone resistance, thyroid hormone receptor β, thyroid hormone, gene mutation, autosomal genetic disease

Update on resistance to thyroid hormone syndromeβ

Read this article at

Abstract

Related collections

Estudio del peso al nacer

Most cited references 33

Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.

The syndromes of resistance to thyroid hormone.

Pituitary tumours: TSH-secreting adenomas.

Author and article information

Contributors

Journal

Affiliations

Author information

Article

History

Categories

Custom metadata

Comments

Comment on this article

Similar content 590

Cited by 10

Most referenced authors 328