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Thyroid hormone plasma membrane transport defect(DEFECT)

MedGen UID:
396060
•Concept ID:
C1861101
•
Disease or Syndrome
Synonyms: DEFECT; Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport; Thyroid hormone resistance due to T4 plasma membrane transport defect
 
Monarch Initiative: MONDO:0008568
OMIM®: 188560

Clinical features

From HPO
Goiter
MedGen UID:
42270
•Concept ID:
C0018021
•
Disease or Syndrome
An enlargement of the thyroid gland.
See: Feature record | Search on this feature
Euthyroid hyperthyroxinemia
MedGen UID:
867191
•Concept ID:
C4021549
•
Disease or Syndrome
Increased levels of thyroxine without evidence of clinical thyroid disease.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Different causes of reduced sensitivity to thyroid hormone: diagnosis and clinical management.
Visser WE, van Mullem AA, Visser TJ, Peeters RP
Clin Endocrinol (Oxf) 2013 Nov;79(5):595-605. Epub 2013 Aug 17 doi: 10.1111/cen.12281. PMID: 23834164
Cardiac function in thyroid disease: clinical features and management considerations.
Dillmann WH
Ann Thorac Surg 1993 Jul;56(1 Suppl):S9-14; discussion S14-5. doi: 10.1016/0003-4975(93)90549-w. PMID: 8333800

Recent clinical studies

Etiology

Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
The iodide-transport-defect-causing mutation R124H: a δ-amino group at position 124 is critical for maturation and trafficking of the Na+/I- symporter.
Paroder V, Nicola JP, Ginter CS, Carrasco N
J Cell Sci 2013 Aug 1;126(Pt 15):3305-13. Epub 2013 May 20 doi: 10.1242/jcs.120246. PMID: 23690546Free PMC Article
Asn441 plays a key role in folding and function of the Na+/I- symporter (NIS).
Li W, Nicola JP, Amzel LM, Carrasco N
FASEB J 2013 Aug;27(8):3229-38. Epub 2013 May 6 doi: 10.1096/fj.13-229138. PMID: 23650190Free PMC Article
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
Kersseboom S, Kremers GJ, Friesema EC, Visser WE, Klootwijk W, Peeters RP, Visser TJ
Mol Endocrinol 2013 May;27(5):801-13. Epub 2013 Apr 2 doi: 10.1210/me.2012-1356. PMID: 23550058Free PMC Article
Thiazolidinediones--tools for the research of metabolic syndrome X.
Komers R, Vrána A
Physiol Res 1998;47(4):215-25. PMID: 9803467

Diagnosis

A Historical Reflection on Scientific Advances in Understanding Thyroid Hormone Action.
Brent GA
Thyroid 2023 Oct;33(10):1140-1149. Epub 2023 Aug 18 doi: 10.1089/thy.2022.0636. PMID: 37594753
Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.
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
Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
Fu J, Dumitrescu AM
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):189-201. Epub 2013 Jul 9 doi: 10.1016/j.beem.2013.05.014. PMID: 24629861Free PMC Article
Molecular aspects of thyroid hormone actions.
Cheng SY, Leonard JL, Davis PJ
Endocr Rev 2010 Apr;31(2):139-70. Epub 2010 Jan 5 doi: 10.1210/er.2009-0007. PMID: 20051527Free PMC Article

Therapy

Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.
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
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
Effect of excess iodine intake on thyroid on human health.
Koukkou EG, Roupas ND, Markou KB
Minerva Med 2017 Apr;108(2):136-146. Epub 2017 Jan 12 doi: 10.23736/S0026-4806.17.04923-0. PMID: 28079354
Thyroid hormone action in chronic kidney disease.
Amato AA, Santos GM, Neves Fde A
Curr Opin Endocrinol Diabetes Obes 2008 Oct;15(5):459-65. doi: 10.1097/MED.0b013e32830eb85e. PMID: 18769220

Prognosis

Fgf2 and Ptpn11 play a role in cerebral injury caused by sevoflurane anesthesia.
Zhang L, Xu L
Medicine (Baltimore) 2023 Nov 10;102(45):e36108. doi: 10.1097/MD.0000000000036108. PMID: 37960778Free PMC Article
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S
Thyroid 2021 Sep;31(9):1316-1321. Epub 2021 Jul 2 doi: 10.1089/thy.2020.0696. PMID: 34049438Free PMC Article
Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
Martín M, Bernal Barquero CE, Geysels RC, Papendieck P, Peyret V, Masini-Repiso AM, Chiesa AE, Nicola JP
Thyroid 2019 Jul;29(7):1023-1026. Epub 2019 Jul 2 doi: 10.1089/thy.2019.0046. PMID: 31115276
Think globally: act locally. New insights into the local regulation of thyroid hormone availability challenge long accepted dogmas.
Schweizer U, Weitzel JM, Schomburg L
Mol Cell Endocrinol 2008 Jul 16;289(1-2):1-9. Epub 2008 Apr 22 doi: 10.1016/j.mce.2008.04.007. PMID: 18508193
Nanomolar affinity small molecule correctors of defective Delta F508-CFTR chloride channel gating.
Yang H, Shelat AA, Guy RK, Gopinath VS, Ma T, Du K, Lukacs GL, Taddei A, Folli C, Pedemonte N, Galietta LJ, Verkman AS
J Biol Chem 2003 Sep 12;278(37):35079-85. Epub 2003 Jun 27 doi: 10.1074/jbc.M303098200. PMID: 12832418

Clinical prediction guides

Thyroid hormone cell membrane transport defect.
Ramos HE
Endocr Dev 2014;26:108-17. Epub 2014 Aug 29 doi: 10.1159/000363158. PMID: 25231447
Follow the ATP: tumor energy production: a perspective.
Oronsky BT, Oronsky N, Fanger GR, Parker CW, Caroen SZ, Lybeck M, Scicinski JJ
Anticancer Agents Med Chem 2014;14(9):1187-98. doi: 10.2174/1871520614666140804224637. PMID: 25102360
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
Thyroid hormones and fetal neurological development.
Patel J, Landers K, Li H, Mortimer RH, Richard K
J Endocrinol 2011 Apr;209(1):1-8. Epub 2011 Jan 6 doi: 10.1530/JOE-10-0444. PMID: 21212091
Subcellular remodeling and heart dysfunction in chronic diabetes.
Dhalla NS, Liu X, Panagia V, Takeda N
Cardiovasc Res 1998 Nov;40(2):239-47. doi: 10.1016/s0008-6363(98)00186-2. PMID: 9893715

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