U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
Metwalley K, Farghaly H
Acta Biomed 2021 Sep 2;92(4):e2021255. doi: 10.23750/abm.v92i4.11613. PMID: 34487068Free PMC Article
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

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
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
Mehran L, Delbari N, Amouzegar A, Hasheminia M, Tohidi M, Azizi F
J Clin Endocrinol Metab 2022 Jan 1;107(1):167-176. doi: 10.1210/clinem/dgab646. PMID: 34480566
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
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

Pappa T, Refetoff S
Front Endocrinol (Lausanne) 2021;12:656551. Epub 2021 Mar 31 doi: 10.3389/fendo.2021.656551. PMID: 33868182Free PMC Article
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
Onigata K, Szinnai G
Endocr Dev 2014;26:118-29. Epub 2014 Aug 29 doi: 10.1159/000363159. PMID: 25231448
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
Olateju TO, Vanderpump MP
Ann Clin Biochem 2006 Nov;43(Pt 6):431-40. doi: 10.1258/000456306778904678. PMID: 17132274

Therapy

Lee KW, Shin Y, Lee S, Lee S
Front Endocrinol (Lausanne) 2021;12:803024. Epub 2022 Jan 18 doi: 10.3389/fendo.2021.803024. PMID: 35126314Free PMC Article
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
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
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
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

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
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
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
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
Guo ML, Zheng X, Yang LX, Qiu YL, Cheng L, Ma SG
Arch Endocrinol Metab 2016 Nov-Dec;60(6):601-604. Epub 2016 Oct 10 doi: 10.1590/2359-3997000000214. PMID: 27737329Free PMC Article

Clinical prediction guides

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
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
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
Brent GA
J Clin Invest 2012 Sep;122(9):3035-43. Epub 2012 Sep 4 doi: 10.1172/JCI60047. PMID: 22945636Free PMC Article
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...