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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); Thyroid hormone resistance syndrome (237559000); TSH (thyroid stimulating hormone) resistance (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
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
Reduced Sensitivity to Thyroid Hormone Is Associated with Diabetes and Hypertension.
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
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
TRα Mutations in Human.
Briet C, Bouhours-Nouet N, Illouz F, Prunier-Mirebeau D, Rodien P
Methods Mol Biol 2018;1801:241-245. doi: 10.1007/978-1-4939-7902-8_19. PMID: 29892829
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
Resistance to thyroid hormone.
Weiss RE, Refetoff S
Rev Endocr Metab Disord 2000 Jan;1(1-2):97-108. doi: 10.1023/a:1010072605757. PMID: 11704998

Therapy

Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Salas-Lucia F, França MM, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S
Thyroid 2022 Mar;32(3):336-339. doi: 10.1089/thy.2021.0523. PMID: 34969265Free PMC Article
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
Physiological consequences of the TRalpha1 aporeceptor state.
Mittag J, Wallis K, Vennström B
Heart Fail Rev 2010 Mar;15(2):111-5. Epub 2008 Nov 14 doi: 10.1007/s10741-008-9119-5. PMID: 19009345
Resistance to thyroid hormone.
Refetoff S
Curr Ther Endocrinol Metab 1997;6:132-4. PMID: 9174721

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
Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Salas-Lucia F, França MM, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S
Thyroid 2022 Mar;32(3):336-339. doi: 10.1089/thy.2021.0523. PMID: 34969265Free 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
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
Detection of resistance to thyroid hormone by cord blood screening.
Wong GW, Shek CC, Lam ST, Tsui MK, Leung SS
Acta Paediatr 1995 Mar;84(3):335-6. doi: 10.1111/j.1651-2227.1995.tb13639.x. PMID: 7780259

Clinical prediction guides

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
Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Salas-Lucia F, França MM, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S
Thyroid 2022 Mar;32(3):336-339. doi: 10.1089/thy.2021.0523. PMID: 34969265Free PMC Article
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

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