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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

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.
Persani L, Rodien P, Moran C, Edward Visser W, Groeneweg S, Peeters R, Refetoff S, Gurnell M, Beck-Peccoz P, Chatterjee K
Eur Thyroid J 2024 Aug 1;13(4) Epub 2024 Aug 3 doi: 10.1530/ETJ-24-0125. PMID: 38963712Free PMC Article
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
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

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
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
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
Commonly asked questions about thyroid function.
Smith SA
Mayo Clin Proc 1995 Jun;70(6):573-7. doi: 10.4065/70.6.573. PMID: 7776719
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
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.
Rajatanavin R, Braverman LE
J Endocrinol Invest 1983 Dec;6(6):493-505. doi: 10.1007/BF03348351. PMID: 6368663

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
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
Amphetamine-induced hyperthyroxinemia.
Morley JE, Shafer RB, Elson MK, Slag MF, Raleigh MJ, Brammer GL, Yuwiler A, Hershman JM
Ann Intern Med 1980 Nov;93(5):707-9. doi: 10.7326/0003-4819-93-5-707. PMID: 6782925

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
Quantifying energy expenditure in childhood: utility in managing pediatric metabolic disorders.
Watson LPE, Carr KS, Venables MC, Acerini CL, Lyons G, Moran C, Murgatroyd PR, Chatterjee K
Am J Clin Nutr 2019 Nov 1;110(5):1186-1191. doi: 10.1093/ajcn/nqz177. PMID: 31410443Free PMC Article
Optimizing Levothyroxine Dose Adjustment After Thyroidectomy With a Decision Tree.
Chen SS, Zaborek NA, Doubleday AR, Schaefer SC, Long KL, Pitt SC, Sippel RS, Schneider DF
J Surg Res 2019 Dec;244:102-106. Epub 2019 Jul 4 doi: 10.1016/j.jss.2019.06.025. PMID: 31279993Free 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

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
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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    • Gene
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    • GTR(Clinical)
      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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