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      Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female

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          Abstract

          Resistance to thyroid hormone (RTH) is a rare syndrome of reduced responsiveness of target tissues to thyroid hormone and is caused mutation in the thyroid β receptor gene. We report a novel mutation, E445X, causing RTH in a 4-year old girl. The patient exhibited extreme signs and symptoms of RTH at an early age, and had a large compressive goiter. Following total extracapsular thyroidectomy, upper airway compression was relieved and symptoms of hyperthyroidism improved. This case appears to be the youngest child recorded to have undergone total thyroidectomy for RTH. Post-operative TSH elevations were managed with every-other-day triiodothyronine therapy.

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          Follow-up of newborns with elevated screening T4 concentrations.

          Andrew Nelson, M Skeels, Nalini Singh … (2003)
          To determine the type and incidence of hyperthyroxinemic disorders detected by follow-up of infants with elevated screening total T4 (TT4) values. Infants born in Oregon with a screening TT4 measurement >3 SD above the mean were offered enrollment. Serum TT4, free T4, total T3, free T3, and thyroid-stimulating hormone concentrations were measured in study infants and their mothers. Over a 20-month period, 101 infants (51 boys) and their mothers enrolled in the study (of 241 eligible infants), from a total screening population of 80,884; 17 infants were identified with persistent hyperthyroxinemia (TT4 >16 microg/dL). Ten had thyroxine-binding globulin excess (1:8088), 5 had evidence for increased T4 binding but not thyroxine-binding globulin excess (1:16,177), and 2 had findings compatible with thyroid hormone resistance (1:40,442); the other 84 infants had transient hyperthyroxinemia. Sequence analysis revealed a point mutation in the thyroid hormone receptor-beta gene in one infant with thyroid hormone resistance; no mutation was identified in the other infant. Although neonatal Graves' disease occurs in approximately 1 in 25,000 newborn infants, we did not detect any case among 80,884 infants, most likely because their mothers were receiving antithyroid drugs. Although the other hyperthyroxinemic disorders in the aggregate occur frequently (1:4758) and may benefit from detection, in general they do not require treatment.
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            Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine.

            Samuel Refetoff, João Anselmo (2003)
            Resistance to thyroid hormone (RTH) is a syndrome of reduced responsiveness to thyroid hormone caused, in the majority of cases, by mutation in the thyroid hormone receptor (TR) beta gene. Partial compensation through increase synthesis and secretion of thyroid hormone is mediated through TSH and results in thyroid gland enlargement. Goiters are of variable size but are recalcitrant to surgical treatment, and tend to recur. We describe a 17-year-old girl with a very large goiter cosmetically unacceptable to the patient. She was the index case of a large Azorean family harbouring the TRbeta mutation R243Q. Complete goiter regression was achieved without significant side effects by administration of L-T3 every other day. The required dose of 250 microg suppressing TSH to values below 0.1 mU/L was derived by titration. Supraphysiological doses of L-T3 can be given safely as long-term treatment of goiter in patients RTH.
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              Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone.

              Samuel Refetoff (2008)
              Article 0 comments Cited 9 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Pediatr Endocrinol
                Title: International Journal of Pediatric Endocrinology
                Publisher: BioMed Central
                ISSN (Print): 1687-9848
                ISSN (Electronic): 1687-9856
                Publication date (Print): 2011
                Publication date (Electronic): 21 June 2011
                Volume: 2011
                Issue: 1
                Page: 3
                Affiliations
                [1 ]Department of Surgery, Yale Pediatric Thyroid Center, Yale-New Haven Children's Hospital, 2 Park Street, West Pavilion, 2nd Floor, New Haven, CT 06510, USA
                [2 ]Department of Pediatrics, Yale Pediatric Thyroid Center, Yale-New Haven Children's Hospital, 2 Park Street, West Pavilion, 2nd Floor, New Haven, CT 06510, USA
                Article
                Publisher ID: 1687-9856-2011-3
                DOI: 10.1186/1687-9856-2011-3
                PMC ID: 3159137
                PubMed ID: 21860630
                SO-VID: 8624520c-dcd8-447a-ac99-b9c9de0bef26
                Copyright © Copyright ©2011 Canadas et al; licensee BioMed Central Ltd.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 13 April 2011
                Date accepted : 21 June 2011
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Pediatrics
                Keywords: thyroid,child,thyroid hormone resistance
                Data availability:
                ScienceOpen disciplines: Pediatrics
                Keywords: thyroid, child, thyroid hormone resistance

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