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Thyroid hormone resistance syndrome

MedGen UID:
424854
•Concept ID:
C2940786
•
Disease or Syndrome
Synonym: Thyroid Hormone Resistance
SNOMED CT: Refetoff syndrome (111567006); Thyroid hormone resistance (237559000); Resistance to thyrotropin (237559000); Resistance to thyroid stimulating hormone (237559000); TSH resistance (237559000); Thyroid hormone resistance syndrome (237559000)
 
Monarch Initiative: MONDO:0001328

Definition

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Thyrotropin-secreting tumor "TSH-PitNET": From diagnosis to treatment.
Briet C, Suteau V, Illouz F, Rodien P
Ann Endocrinol (Paris) 2023 Aug;84(4):407-412. Epub 2023 Jan 27 doi: 10.1016/j.ando.2023.01.004. PMID: 36716819
Hormone resistance in children: what primary care physicians need to know.
Metwalley K, Farghaly H
Acta Biomed 2021 Sep 2;92(4):e2021255. doi: 10.23750/abm.v92i4.11613. PMID: 34487068Free PMC Article
Effects of thyroid hormones on cardiac structure: a tissue characterization study in patients with thyroid disorders before and after treatment.
Ciulla MM, Paliotti R, Cortelazzi D, Tortora G, Barelli MV, Buonamici V, Magrini F, Beck-Peccoz P
Thyroid 2001 Jul;11(7):613-9. doi: 10.1089/105072501750362673. PMID: 11484889

Recent clinical studies

Etiology

Association between thyroid hormone resistance and obesity: a cross-sectional study and mouse stimulation test.
Wang Z, Yu H, Wang K, Han J, Song Y
Obesity (Silver Spring) 2024 Aug;32(8):1483-1493. doi: 10.1002/oby.24084. PMID: 39045674
Impaired sensitivity to thyroid hormone correlates to osteoporosis and fractures in euthyroid individuals.
Liu C, Hua L, Liu K, Xin Z
J Endocrinol Invest 2023 Oct;46(10):2017-2029. Epub 2023 Feb 16 doi: 10.1007/s40618-023-02035-1. PMID: 36795243
Thyroid Hormone Resistance: Multicentrical Case Series Study.
Santos Mata MA, Ariza Jimenez AB, Macias Lopez F, de la Camara Moraño C
Horm Metab Res 2022 Feb;54(2):67-75. Epub 2022 Feb 7 doi: 10.1055/a-1725-8533. PMID: 35130567
Fetal thyroïdology.
Polak M, Luton D
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):161-73. Epub 2013 Jun 6 doi: 10.1016/j.beem.2013.04.013. PMID: 24629859
Coregulator-related diseases.
Yanase T, Adachi M, Goto K, Takayanagi R, Nawata H
Intern Med 2004 May;43(5):368-73. doi: 10.2169/internalmedicine.43.368. PMID: 15206547

Diagnosis

Resistance to Thyroid Hormone Beta: A Focused Review.
Pappa T, Refetoff S
Front Endocrinol (Lausanne) 2021;12:656551. Epub 2021 Mar 31 doi: 10.3389/fendo.2021.656551. PMID: 33868182Free PMC Article
Impaired Sensitivity to Thyroid Hormones Is Associated With Diabetes and Metabolic Syndrome.
Laclaustra M, Moreno-Franco B, Lou-Bonafonte JM, Mateo-Gallego R, Casasnovas JA, Guallar-Castillon P, Cenarro A, Civeira F
Diabetes Care 2019 Feb;42(2):303-310. Epub 2018 Dec 14 doi: 10.2337/dc18-1410. PMID: 30552134
Resistance to thyroid hormone.
Onigata K, Szinnai G
Endocr Dev 2014;26:118-29. Epub 2014 Aug 29 doi: 10.1159/000363159. PMID: 25231448
Hypothyroidism.
Diaz A, Lipman Diaz EG
Pediatr Rev 2014 Aug;35(8):336-47; quiz 348-9. doi: 10.1542/pir.35-8-336. PMID: 25086165
Fetal thyroïdology.
Polak M, Luton D
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):161-73. Epub 2013 Jun 6 doi: 10.1016/j.beem.2013.04.013. PMID: 24629859

Therapy

Tiratricol inhibits yellow fever virus replication through targeting viral RNA-dependent RNA polymerase of NS5.
Ren H, Wang J, Tang H, Qian X, Xia B, Luo Z, Xu Z, Qi Z, Zhao P
Antiviral Res 2023 Nov;219:105737. Epub 2023 Oct 24 doi: 10.1016/j.antiviral.2023.105737. PMID: 37879570
Therapeutic applications of thyroid hormone analogues.
Visser WE
Ann Endocrinol (Paris) 2021 Jun;82(3-4):170-172. Epub 2020 Mar 4 doi: 10.1016/j.ando.2020.03.004. PMID: 32197712
Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes.
Groeneweg S, Peeters RP, Visser TJ, Visser WE
Mol Cell Endocrinol 2017 Dec 15;458:82-90. Epub 2017 Feb 21 doi: 10.1016/j.mce.2017.02.029. PMID: 28235578
Hypothyroidism.
Diaz A, Lipman Diaz EG
Pediatr Rev 2014 Aug;35(8):336-47; quiz 348-9. doi: 10.1542/pir.35-8-336. PMID: 25086165
Fetal thyroïdology.
Polak M, Luton D
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):161-73. Epub 2013 Jun 6 doi: 10.1016/j.beem.2013.04.013. PMID: 24629859

Prognosis

Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
Maharaj AV
Front Endocrinol (Lausanne) 2023;14:1268345. Epub 2023 Dec 21 doi: 10.3389/fendo.2023.1268345. PMID: 38189052Free PMC Article
Thyroid hormone resistance from newborns to adults: a Spanish experience.
Vela A, Pérez-Nanclares G, Ríos I, Rica I, Portillo N, Castaño L; Spanish Group for the Study of RTH
J Endocrinol Invest 2019 Aug;42(8):941-949. Epub 2019 Feb 1 doi: 10.1007/s40618-019-1007-4. PMID: 30707410
Impaired Sensitivity to Thyroid Hormones Is Associated With Diabetes and Metabolic Syndrome.
Laclaustra M, Moreno-Franco B, Lou-Bonafonte JM, Mateo-Gallego R, Casasnovas JA, Guallar-Castillon P, Cenarro A, Civeira F
Diabetes Care 2019 Feb;42(2):303-310. Epub 2018 Dec 14 doi: 10.2337/dc18-1410. PMID: 30552134
Clinical and Molecular Characteristics of Eight Israeli Families with Thyroid Hormone Receptor Beta Mutations.
Zaig E, Cohen-Ouaknine O, Tsur A, Nagar S, Bril G, Tolkin L, Cahn A, Heyman M, Glaser B
Isr Med Assoc J 2018 Nov;20(11):679-686. PMID: 30430796
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Pappa T, Anselmo J, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S
J Clin Endocrinol Metab 2017 Oct 1;102(10):3775-3782. doi: 10.1210/jc.2017-01251. PMID: 28938413Free PMC Article

Clinical prediction guides

Thyroid Hormone Resistance: Multicentrical Case Series Study.
Santos Mata MA, Ariza Jimenez AB, Macias Lopez F, de la Camara Moraño C
Horm Metab Res 2022 Feb;54(2):67-75. Epub 2022 Feb 7 doi: 10.1055/a-1725-8533. PMID: 35130567
Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.
van Gucht ALM, Moran C, Meima ME, Visser WE, Chatterjee K, Visser TJ, Peeters RP
Curr Top Dev Biol 2017;125:337-355. Epub 2017 Mar 21 doi: 10.1016/bs.ctdb.2017.02.001. PMID: 28527577
Hypothyroidism.
Diaz A, Lipman Diaz EG
Pediatr Rev 2014 Aug;35(8):336-47; quiz 348-9. doi: 10.1542/pir.35-8-336. PMID: 25086165
Mechanisms of thyroid hormone action.
Brent GA
J Clin Invest 2012 Sep;122(9):3035-43. Epub 2012 Sep 4 doi: 10.1172/JCI60047. PMID: 22945636Free PMC Article
Coregulator-related diseases.
Yanase T, Adachi M, Goto K, Takayanagi R, Nawata H
Intern Med 2004 May;43(5):368-73. doi: 10.2169/internalmedicine.43.368. PMID: 15206547

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