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Hyperthyroxinemia, dystransthyretinemic(DTTRH)

MedGen UID:
442573
•Concept ID:
C2750824
•
Disease or Syndrome
Synonyms: Dystransthyretinemic euthyroidal hyperthyroxinemia; EUTHRYROIDAL HYPERTHYROXINEMIA 2; HYPERTHYROXINEMIA, DYSPREALBUMINEMIC
 
Gene (location): TTR (18q12.1)
 
Monarch Initiative: MONDO:0007785
OMIM®: 145680

Definition

Dystransthyretinemic hyperthyroxinemia (DTTRH) is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals (summary by Moses et al., 1990). [from OMIM]

Clinical features

From HPO
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

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
Treatment of congenital thyroid dysfunction: Achievements and challenges.
Krude H, Kühnen P, Biebermann H
Best Pract Res Clin Endocrinol Metab 2015 Jun;29(3):399-413. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.004. PMID: 26051299
Neonatal hypothyroidism: treatment and outcome.
Van Vliet G
Thyroid 1999 Jan;9(1):79-84. doi: 10.1089/thy.1999.9.79. PMID: 10037081

Recent clinical studies

Etiology

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
Maternal Thyroid Dysfunction and Neuropsychological Development in Children.
Chen Y, Luo ZC, Zhang T, Fan P, Ma R, Zhang J, Ouyang F
J Clin Endocrinol Metab 2023 Jan 17;108(2):339-350. doi: 10.1210/clinem/dgac577. PMID: 36198069
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
Propranolol-induced hyperthyroxinemia.
Mooradian A, Morley JE, Simon G, Shafer RB
Arch Intern Med 1983 Nov;143(11):2193-5. PMID: 6639243

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
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
Euthyroid hyperthyroxinemia.
Borst GC, Eil C, Burman KD
Ann Intern Med 1983 Mar;98(3):366-78. doi: 10.7326/0003-4819-98-3-366. PMID: 6187257

Therapy

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
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
Propranolol-induced hyperthyroxinemia.
Mooradian A, Morley JE, Simon G, Shafer RB
Arch Intern Med 1983 Nov;143(11):2193-5. PMID: 6639243
Euthyroid hyperthyroxinemia.
Borst GC, Eil C, Burman KD
Ann Intern Med 1983 Mar;98(3):366-78. doi: 10.7326/0003-4819-98-3-366. PMID: 6187257

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
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE, Tellechea ML
Front Endocrinol (Lausanne) 2021;12:643307. Epub 2021 Aug 18 doi: 10.3389/fendo.2021.643307. PMID: 34484109Free PMC Article
Familial Dysalbuminemic Hyperthyroxinemia (FDH), Albumin Gene Variant (R218S), and Risk of Miscarriages in Offspring.
Lai S, Gopalakrishnan G, Li J, Liu X, Chen Y, Wen Y, Zhang S, Huang B, Phornphutkul C, Liu S, Kuang J
Am J Med Sci 2020 Nov;360(5):566-574. Epub 2020 May 28 doi: 10.1016/j.amjms.2020.05.035. PMID: 32665066
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
Thyroid function in hyperemesis gravidarum.
Swaminathan R, Chin RK, Lao TT, Mak YT, Panesar NS, Cockram CS
Acta Endocrinol (Copenh) 1989 Feb;120(2):155-60. doi: 10.1530/acta.0.1200155. PMID: 2916376

Clinical prediction guides

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
Propranolol-induced hyperthyroxinemia.
Mooradian A, Morley JE, Simon G, Shafer RB
Arch Intern Med 1983 Nov;143(11):2193-5. PMID: 6639243

Recent systematic reviews

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE, Tellechea ML
Front Endocrinol (Lausanne) 2021;12:643307. Epub 2021 Aug 18 doi: 10.3389/fendo.2021.643307. PMID: 34484109Free PMC Article
A systematic review of thyroid dysfunction in preterm neonates exposed to topical iodine.
Aitken J, Williams FL
Arch Dis Child Fetal Neonatal Ed 2014 Jan;99(1):F21-8. Epub 2013 Oct 8 doi: 10.1136/archdischild-2013-303799. PMID: 24105624

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