Coexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up

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SUMMARY

Resistance to thyroid hormone (RTH) coexisting with ectopic thyroid is rare. Here we report a case of RTH with ectopic thyroid. A ten-year-old girl had been misdiagnosed as congenital hypothyroidism and treated with levothyroxine since she was born. Ten-year follow-up showed that the elevated thyrotropin was never suppressed by levothyroxine and no signs indicating hyperthyroidism or hypothyroidism despite elevated FT3 and FT4 levels. Therefore the girl developed no defects in physical and cognitive development. Pituitary adenoma was excluded by magnetic resonance imaging. Ultrasonography did not find the thyroid gland in the normal place, while the thyroid scan found a large lingual thyroid gland. The octreotide inhibition test showed a reduction in thyrotropin by 41.98%. No mutation was detected in the thyroid hormone receptor (THR) β, THRα, thyrotropin receptor (TSHR), and GNAS1 genes. To our knowledge, it is an interesting RTH case coexisting with lingual thyroid.

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Most cited references 34

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The syndromes of reduced sensitivity to thyroid hormone.

Alexandra Dumitrescu, Samuel Refetoff (2013)

Six known steps are required for the circulating thyroid hormone (TH) to exert its action on target tissues. For three of these steps, human mutations and distinct phenotypes have been identified. The clinical, laboratory, genetic and molecular characteristics of these three defects of TH action are the subject of this review. The first defect, recognized 45years ago, produces resistance to TH and carries the acronym, RTH. In the majority of cases it is caused by TH receptor β gene mutations. It has been found in over 3000 individuals belonging to approximately 1000 families. Two relatively novel syndromes presenting reduced sensitivity to TH involve membrane transport and metabolism of TH. One of them, caused by mutations in the TH cell-membrane transporter MCT8, produces severe psychomotor defects. It has been identified in more than 170 males from 90 families. A defect of the intracellular metabolism of TH in 10 individuals from 8 families is caused by mutations in the SECISBP2 gene required for the synthesis of selenoproteins, including TH deiodinases. Defects at different steps along the pathway leading to TH action at cellular level can manifest as reduced sensitivity to TH. Knowledge of the molecular mechanisms involved in TH action allows the recognition of the phenotypes caused by defects of TH action. Once previously known defects have been ruled out, new molecular defects could be sought, thus opening the avenue for novel insights in thyroid physiology. This article is part of a Special Issue entitled Thyroid hormone signaling. Copyright © 2012 Elsevier B.V. All rights reserved.

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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.

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Ectopic thyroid: etiology, pathology and management.

Nasiru Ibrahim, Idowu Fadeyibi (2015)

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Author and article information

Journal

Journal ID (nlm-ta): Arch Endocrinol Metab

Journal ID (iso-abbrev): Arch Endocrinol Metab

Journal ID (publisher-id): aem

Title: Archives of Endocrinology and Metabolism

Publisher: Sociedade Brasileira de Endocrinologia e Metabologia

ISSN (Print): 2359-3997

ISSN (Electronic): 2359-4292

Publication date (Electronic): 26 September 2016

Publication date Collection: Nov-Dec 2016

Volume: 60

Issue: 6

Pages: 601-604

Affiliations

[1 ] orgdiv1Department of Endocrinology and Metabolism orgnameHuai’an Hospital Affiliated to Xuzhou Medical College and Huai’an Second People’s Hospital Huai’an China originalDepartment of Endocrinology and Metabolism, Huai’an Hospital Affiliated to Xuzhou Medical College and Huai’an Second People’s Hospital, Huai’an, China

[2 ] orgdiv1Department of Endocrinology and Metabolism orgnameSecond Hospital Affiliated to Guilin Medical College Guilin China originalDepartment of Endocrinology and Metabolism, the Second Hospital Affiliated to Guilin Medical College, Guilin, China

[3 ] orgdiv1Department of Neonatal Screening and Care orgnameWomen and Children’s Hospital of Suqian Suqian China originalDepartment of Neonatal Screening and Care, Women and Children’s Hospital of Suqian, Suqian, China

Author notes

Correspondence to: Shao-Gang Ma. mashaogang@ 123456163.com

Disclosure: no potential conflict of interest relevant to this article was reported.

Trial registration: ChiCTR-CCS-14004734.

Article

Publisher ID: 2359-3997000000214

DOI: 10.1590/2359-3997000000214

PMC ID: 10522167

PubMed ID: 27737329

SO-VID: e39228c3-953a-4345-bb3f-a44647b68fb6

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 27 October 2015

Date accepted : 4 July 2016

Page count

Figures: 3, Tables: 2, Equations: 0, References: 22, Pages: 1

Funding

Funded by: Social Development Project of Huai’an City

Award ID: HAS2014005

Funded by: Maternal and Child Health Research Project

Award ID: F201345

Funded by: Guangxi University

Award ID: KY2015LX267

Funding statement: this work was supported by the Social Development Project of Huai’an City [grant number: HAS2014005], the Maternal and Child Health Research Project of Jiangsu Province [grant number: F201345] and the Science and Technology Research Projects of Guangxi University [grant number: KY2015LX267].

Coexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up

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Most cited references 34

The syndromes of reduced sensitivity to thyroid hormone.

Pituitary tumours: TSH-secreting adenomas.

Ectopic thyroid: etiology, pathology and management.

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