hyperthyroxinemia

Summary

Summary: Abnormally elevated THYROXINE level in the BLOOD.

Top Publications

  1. Saraiva M. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat. 2001;17:493-503 pubmed
    ..Among these are mutations responsible for hyperthyroxinemia, presenting high affinity for thyroxine (a TTR ligand)...
  2. Petersen C, Ha C, Jameson D, Bhagavan N. Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. J Biol Chem. 1996;271:19110-7 pubmed
    The familial dysalbuminemic hyperthyroxinemia (FDH) phenotype results from a natural human serum albumin (HSA) mutant with histidine instead of arginine at amino acid position 218...
  3. Pannain S, Feldman M, Eiholzer U, Weiss R, Scherberg N, Refetoff S. Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. J Clin Endocrinol Metab. 2000;85:2786-92 pubmed
    Familial dysalbuminemic hyperthyroxinemia (FDH), is the most common cause of inherited increase in serum total T4 (TT4) in the Caucasian population...
  4. Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, Koike T. A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. J Clin Endocrinol Metab. 1997;82:3246-50 pubmed
    Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of inherited euthyroid hyperthyroxinemia in Caucasians. To our knowledge, no such documentation on Asians exists...
  5. Sunthornthepvarakul T, Angkeow P, Weiss R, Hayashi Y, Refetoff S. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun. 1994;202:781-7 pubmed
    Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common form of inherited increase of serum thyroxine in Caucasians. It is the result of increased thyroxine-binding to serum proteins and is inherited as a dominant trait...
  6. Petersen C, Ha C, Harohalli K, Park D, Feix J, Isozaki O, et al. Structural investigations of a new familial dysalbuminemic hyperthyroxinemia genotype. Clin Chem. 1999;45:1248-54 pubmed
    ..that the amino acid substitution R218H in human serum albumin (HSA) was the cause of familial dysalbuminemic hyperthyroxinemia (FDH) in several Caucasian patients...
  7. Petitpas I, Petersen C, Ha C, Bhattacharya A, Zunszain P, Ghuman J, et al. Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. Proc Natl Acad Sci U S A. 2003;100:6440-5 pubmed
    ..for thyroxine and causes the elevated serum thyroxine levels associated with familial dysalbuminemic hyperthyroxinemia (FDH)...
  8. Refetoff S, Marinov V, Tunca H, Byrne M, Sunthornthepvarakul T, Weiss R. A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. J Clin Endocrinol Metab. 1996;81:3335-40 pubmed
    ..Missense mutations of the TTR gene produce familial amyloidotic polyneuropathy and rarely, euthyroid hyperthyroxinemia (EHT)...
  9. Monfoulet L, Rabier B, Dacquin R, Anginot A, Photsavang J, Jurdic P, et al. Thyroid hormone receptor ? mediates thyroid hormone effects on bone remodeling and bone mass. J Bone Miner Res. 2011;26:2036-44 pubmed publisher
    ..These data shed new light on the respective roles of TRs in the control of bone metabolism by TH...

More Information

Publications62

  1. Katz N, Toney M, Heironimus J. The effects of danazol on a patient with familial dysalbuminemic hyperthyroxinemia. Clin Nucl Med. 1993;18:53-5 pubmed
    Familial dysalbuminemic hyperthyroxinemia, a syndrome involving an abnormal affinity of albumin for thyroxine, results in elevated total thyroxine and free thyroxine index levels but normal triiodothyronine resin uptake and thyroid-..
  2. Nuovo J, Ellsworth A, Christensen D, Reynolds R. Excessive thyroid hormone replacement therapy. J Am Board Fam Pract. 1995;8:435-9 pubmed
    ..assays for measuring thyrotropin (TSH), has led to an increased chance of actual or detected iatrogenic hyperthyroxinemia. The purpose of this study was to determine the frequency of excessive prescribing and to examine the impact ..
  3. Nørby S. [Point mutations behind familial dysalbuminemic hyperthyroxinemia]. Ugeskr Laeger. 2008;170:2259; author reply 2260 pubmed
  4. Nizam R, Ahmed F. Hyperthyroxinemia and elevated lipids as paraneoplastic phenomena in hepatocellular carcinoma. A case report. J Clin Gastroenterol. 1995;21:246-8 pubmed
    ..This is a rare hepatoma, which in our case manifested with multiple paraneoplastic phenomena, including hyperthyroxinemia, hypercholesterolemia, hypertriglyceridemia, and hyperalbuminemia. We review the pertinent literature.
  5. LaFranchi S, Snyder D, Sesser D, Skeels M, Singh N, Brent G, et al. Follow-up of newborns with elevated screening T4 concentrations. J Pediatr. 2003;143:296-301 pubmed
    ..To determine the type and incidence of hyperthyroxinemic disorders detected by follow-up of infants with elevated screening total T4 (TT4) values...
  6. Rosen H, Moses A, Murrell J, Liepnieks J, Benson M. Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants. J Clin Endocrinol Metab. 1993;77:370-4 pubmed
    ..Alterations in TTR structure can manifest clinically as familial amyloidotic polyneuropathy or euthyroid hyperthyroxinemia. We have measured the relative affinity for T4 of several variant TTR molecules in human plasma...
  7. Bartalena L, Pinchera A. Effects of thyroxine excess on peripheral organs. Acta Med Austriaca. 1994;21:60-5 pubmed
    ..abstract truncated at 250 words)..
  8. Maye P, Bisetti A, Burger A, Docter R, Gaillard R, Griessen M, et al. Hyperprealbuminemia, euthyroid hyperthyroxinemia, Zollinger-Ellison-like syndrome and hypercorticism in a pancreatic endocrine tumour. Acta Endocrinol (Copenh). 1989;120:87-91 pubmed
    ..was so high that it produced a peak on routine serum protein electrophoresis and induced a euthyroid hyperthyroxinemia. The maximal binding capacity of prealbumin for thyroxine was indeed markedly increased, whereas its ..
  9. Tucker W. Euthyroid hyperthyroxinemia due to familial excess of thyroxine-binding globulin. South Med J. 1989;82:368-71 pubmed
    The correct diagnosis of benign hyperthyroxinemia in this patient and his family members will spare them the unnecessary testing and treatment for thyrotoxicosis that has befallen some such patients...
  10. Shulman A, Shapiro M, Bahary C, Shenkman L. Abnormal thyroid function in hyperemesis gravidarum. Acta Obstet Gynecol Scand. 1989;68:533-6 pubmed
    ..In the presence of persistent emesis, despite conservative therapy of at least one week's duration and the presence of abnormal thyroid function studies, the use of antithyroid agents should be considered...
  11. Freeman S, Cherny L, Sohmer H. Thyroxine affects physiological and morphological development of the ear. Hear Res. 1996;97:19-29 pubmed
  12. Steinrauf L, Hamilton J, Braden B, Murrell J, Benson M. X-ray crystal structure of the Ala-109-->Thr variant of human transthyretin which produces euthyroid hyperthyroxinemia. J Biol Chem. 1993;268:2425-30 pubmed
  13. Chatterjee V. Resistance to thyroid hormone--an uncommon cause of thyroxine excess and inappropriate TSH secretion. Acta Med Austriaca. 1994;21:56-60 pubmed
    Resistance to thyroid hormone (RTH) is an uncommon inherited cause of hyperthyroxinemia with inappropriate TSH secretion. The syndromes are characterized by reduced target tissue responsiveness to circulating free thyroid hormones...
  14. Faase E, Meacham L, Novack C, Brakin M, Mosier H, Culler F. Decreased reverse T3 levels in neonates with central hypothyroidism. J Perinatol. 1997;17:15-7 pubmed
    ..This finding suggests that low reverse T3 levels can help to distinguish infants with central hypothyroidism from sick and well infants who tend to have relatively elevated reverse T3 levels...
  15. Petersen C, Ha C, Harohalli K, Park D, Bhagavan N. Mutagenesis studies of thyroxine binding to human serum albumin define an important structural characteristic of subdomain 2A. Biochemistry. 1997;36:7012-7 pubmed
    The familial dysalbuminemic hyperthyroxinemia (FDH) phenotype results from a natural human serum albumin (HSA) mutant, with histidine instead of arginine at amino acid position 218...
  16. Alves I, Divino C, Schussler G, Altland K, Almeida M, Palha J, et al. Thyroxine binding in a TTR Met 119 kindred. J Clin Endocrinol Metab. 1993;77:484-8 pubmed
    ..of the protein's iodothyronine binding site, was identified in individuals with transient euthyroid hyperthyroxinemia. Healthy carriers of Met 119 have normal serum thyroid hormone concentrations, but two studies of Met 119 ..
  17. Joyce P. The prognostic significance of thyroid function in mania. J Psychiatr Res. 1991;25:1-6 pubmed
    ..This adds to the growing literature on important relationships between thyroid hormones and treatment outcome in patients with affective disorders...
  18. Tamai H, Mizuno O, Takaki A, Kiyohara K, Komaki G, Matsubayashi S, et al. Heterogeneity of serum prolactin in patients with menstrual disorder in conjunction with hyperthyroxinemia. J Endocrinol Invest. 1991;14:679-84 pubmed
    ..the possible occurrence of PRL heterogeneity in 128 subjects with menstrual disorder in conjunction with hyperthyroxinemia (88 with untreated Graves' disease, 40 with subacute thyroiditis) and 50 age- and sex-matched healthy ..
  19. Batge B, Langsteger W, Bos I, Peters A. [Pseudohyperthyroxinemia in endemic sprue--reversibility with a gluten-free diet]. Dtsch Med Wochenschr. 1998;123:1269-73 pubmed
    ..An increased concentration of free T3 (fT3) with normal TSH was repeatedly measured in a 58-year-old man with diarrhoea. Hyperthyroidism was diagnosed and he was treated with thyrostatic drugs...
  20. Uy H, Reasner C. Elevated thyroxine levels in a euthyroid patient. A search for the cause of euthyroid hyperthyroxinemia. Postgrad Med. 1994;96:195-202 pubmed
    ..Results of thyroid hormone-binding protein tests confirmed the diagnosis of familial dysalbuminemic hyperthyroxinemia. This disorder should be considered in patients who have a normal serum TSH level, despite an elevated total ..
  21. Weiss R, Sunthornthepvarakul T, Angkeow P, Marcus Bagley D, Cox N, Alper C, et al. Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab. 1995;80:116-21 pubmed
    Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of inherited euthyroid hyperthyroxinemia in Caucasians...
  22. Wood D, Zalin A, Ratcliffe W, Sheppard M. Elevation of free thyroxine measurements in patients without thyrotoxicosis. Q J Med. 1987;65:863-70 pubmed
    ..If the results remain confusing the presence of a variant serum albumin or thyroid hormone binding antibodies should be sought...
  23. Goichot B, Savagner F, Sapin R, Luca F, Schlienger J. Marked hyperthyroxinemia during amiodarone treatment revealing thyroid hormone resistance syndrome. Thyroid. 2008;18:1019-20 pubmed publisher
  24. Chin R, Lao T, Swaminathan R, Mak Y. A longitudinal study of changes in erythrocyte zinc concentration in hyperemesis gravidarum. Gynecol Obstet Invest. 1990;29:22-5 pubmed
    ..01). This indicates that hyperthyroxinaemia in patients with hyperemesis gravidarum represents true hyperthyroidism, but is different from classical thyrotoxicosis in that the elevation of thyroid hormones is transient...
  25. Haas S. Elevated thyroxine and free thyroxine in euthyroid patients: familial dysalbuminemic hyperthyroxinemia. S D J Med. 1990;43:5-7 pubmed
    ..The abnormality was also documented in the patient's father. This entity, known as familial dysalbuminemic hyperthyroxinemia, is being reported with increasing frequency and should be suspected when elevated total thyroxine and free ..
  26. Lee S, Chow C, Wing Y, Shek A, Mak T, Ahuja A, et al. Thyroid function and psychiatric morbidity in patients with manic disorder receiving lithium therapy. J Clin Psychopharmacol. 2000;20:204-9 pubmed
    Euthyroid hyperthyroxinemia as a result of a transient increase in thyroid-stimulating hormone (TSH) levels may contribute to the development of manic disorder...
  27. Wu Y, Chang H, Lin J, Chen K, Huang Y, Jung S. Clinical characteristics of patients with thyrotropin-secreting pituitary adenoma. J Formos Med Assoc. 2003;102:164-71 pubmed
    ..This retrospective study analyzed the clinical characteristics of patients with this disorder treated from 1991 to 2002...
  28. Alexopoulos A, Hutchinson W, Bari A, Keating J, Johnson P, Williams R. Hyperthyroxinaemia in hepatocellular carcinoma: relation to thyroid binding globulin in the clinical and preclinical stages of the disease. Br J Cancer. 1988;57:313-6 pubmed
    ..The rises in TBG occurred prior to any clinical signs of tumour development and may be one of the earliest serological changes to occur during carcinogenesis in the cirrhotic liver...
  29. Sapin R, Gasser F, Chambron J. [Familial hyperthyroxinemia with dysalbuminemia: screening of 21,000 patients at the occasion of thyroid evaluation]. Pathol Biol (Paris). 1989;37:785-9 pubmed
    ..from 21,342 patients undergoing evaluation of thyroid status were screened for familial dysalbuminemic hyperthyroxinemia (FDH) using a specific test based on the measure of charcoal uptake of 125I thyroxine (T4) from serum ..
  30. Beckett G, Ratcliffe W, Chapman B, Wu P, Rae P, Gow S, et al. Non-isotopic, two-step free thyroxine immunoassay: a better measure of free thyroxine than analogue radioimmunoassay. Ann Clin Biochem. 1990;27 ( Pt 6):581-91 pubmed
  31. Leylek O, Toyaksi M, Erselcan T, Dokmetas S. Immunologic and biochemical factors in hyperemesis gravidarum with or without hyperthyroxinemia. Gynecol Obstet Invest. 1999;47:229-34 pubmed
    This study was set up to investigate the relationship between immune process and high levels of human chorionic gonadotropin-beta (betahCG) in hyperemesis patients with or without hyperthyroxinemia.
  32. Tuysuz B, Beker D. Thyroid dysfunction in children with Down's syndrome. Acta Paediatr. 2001;90:1389-93 pubmed
    ..Sixty-five of the 81 patients had a mild compensated hypothyroidism with mild TSH elevation (6-10 mU l(-1)). None of the patients had hyperthyroidism. The antithyroid antibodies were positive in the acquired hypothyroidism case...
  33. Arevalo G. Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing. Clin Chem. 1991;37:1430-1 pubmed
    The prevalence of familial dysalbuminemic hyperthyroxinemia (FDH), a condition sometimes mistaken for hyperthyroidism, has not been clearly established...
  34. Hishinuma A, Mochizuki Y, Kasai K, Shimoda S. [Thyroxine-binding proteins--familial euthyroid hyperthyroxinemia due to point mutations of transthyretin]. Nihon Rinsho. 1994;52:886-9 pubmed
    ..point mutations in transthyretin (TTR) exhibit increased affinity for thyroxine (T4) and result in euthyroid hyperthyroxinemia in affected individuals...
  35. Sternad H, Eber B, Langsteger W, Prohaska R, Költringer P, Wawschinek O, et al. [Familial dysalbuminemic hyperthyroxinemia in long-term amiodarone treated patients]. Acta Med Austriaca. 1994;21:8-10 pubmed
    ..It revealed the pattern of euthyroid dysalbuminemic hyperthyroxinemia. Since no results have been published so far covering the influence of amiodarone on the specific thyroxine ..
  36. Lazarus J. Thyroxine excess and pregnancy. Acta Med Austriaca. 1994;21:53-6 pubmed
    ..Differentiation by measurement of TsAb and thyroidal iodine uptake is important because of therapeutic considerations...
  37. Premachandra B, Wortsman J, Williams I. Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia. Clin Biochem. 1996;29:85-8 pubmed
    To investigate unusual free thyroxine (FT4) responses to T4 replacement doses in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia (FDH).
  38. Carter M, Abdi A, Naz F, Thabet F, Vyas A. A Mercury Toxicity Case Complicated by Hyponatremia and Abnormal Endocrinological Test Results. Pediatrics. 2017;140: pubmed publisher
    ..More importantly, it illustrates that exposure to Hg should be considered in children who present with the symptoms and abnormal endocrinologic test results described in this report. ..
  39. Tiu S, Choi K, Shek C, Lau T. A Chinese family with familial dysalbuminaemic hyperthyroxinaemia. Hong Kong Med J. 2003;9:464-7 pubmed
  40. Premachandra B, Wolfe B, Williams I. Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. Am J Med. 1988;84:345-51 pubmed
    Familial dysalbuminemic hyperthyroxinemia (FDH), an autosomal disorder characterized by an increase in serum albumin binding of thyroxine, has been encountered in a family who was also found to have both familial hypercholesterolemia (..
  41. Fleming S, Applegate G, Beardwell C. Familial dysalbuminaemic hyperthyroxinaemia. Postgrad Med J. 1987;63:273-5 pubmed
    ..Screening of other family members resulted in the discovery of a further six patients at risk of being misdiagnosed as thyrotoxic. Clinical and biochemical findings relevant to the diagnosis of FDH are discussed...
  42. Laji K, Rhidha B, John R, Lazarus J, Davies J. Abnormal serum free thyroid hormone levels due to heparin administration. QJM. 2001;94:471-3 pubmed
    ..Increasing physician awareness of this poorly appreciated entity may avert diagnostic confusion and unnecessary investigation...
  43. Langsteger W, Semlitsch G, Költringer P, Meister E, Eber O. Postpartum thyroiditis and familial dysalbuminemic hyperthyroxinemia. J Clin Endocrinol Metab. 1994;78:58-62 pubmed
    Familial dysalbuminemic hyperthyroxinemia (FDH) is a syndrome associated with euthyroidism and increased binding of T4 to serum albumin...
  44. Tang K, Yang H, Choo K, Lin H, Fang S, Braverman L. A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia. Eur J Endocrinol. 1999;141:374-8 pubmed
    Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant disorder characterized by euthyroid hyperthyroxinemia. However, FDH has not been reported in Chinese or African patients...
  45. Grund F, Niewoehner C. Hyperthyroxinemia in patients receiving thyroid replacement therapy. Arch Intern Med. 1989;149:921-4 pubmed
    Eleven patients, with a history of hypothyroidism, who had hyperthyroxinemia and an elevated free thyroxine index but normal serum triiodothyronine concentrations on levothyroxine replacement underwent levothyroxine dose reduction at ..
  46. Yaman A, Demirel F, Ermis B, Piskin I. Maternal and neonatal urinary iodine status and its effect on neonatal TSH levels in a mildly iodine-deficient area. J Clin Res Pediatr Endocrinol. 2013;5:90-4 pubmed publisher
    ..The purpose of this study was to investigate the urinary iodine status in newborns and their mothers and its effects on neonatal thyroid-stimulating hormone (TSH) levels in a mildly iodine-deficient area...
  47. Tanaka S, Yamada H, Kato E, Furuta I, Fukushi M, Takasugi N, et al. Gestational transient hyperthyroxinaemia (GTH): screening for thyroid function in 23,163 pregnant women using dried blood spots. Clin Endocrinol (Oxf). 1998;49:325-9 pubmed
    ..The aim of this study was to determine the occurrence rate of GTH and the relation between serum levels of hCG, free T4 (fT4), and TSH in a large number of pregnant women...
  48. Arevalo G. Thyroxin binding by human serum albumin after denaturation of the thyroxin-binding globulin in familial dysalbuminemic hyperthyroxinemia. Clin Chem. 1988;34:705-8 pubmed
    Abnormal binding of thyroxin (T4) to serum albumin of subjects with familial dysalbuminemic hyperthyroxinemia (FDH) is generally demonstrated by the T4-loaded charcoal uptake test, with T4 added in excess (0...
  49. Tajima T, Jo W, Fujikura K, Fukushi M, Fujieda K. Elevated free thyroxine levels detected by a neonatal screening system. Pediatr Res. 2009;66:312-6 pubmed publisher
    ..Eleven infants demonstrated persistent hyperthyroxinemia. One patient with slightly elevated free T4 and normal TSH was diagnosed as having familial dysalbuminemic ..
  50. Meek J. Tests of thyroid function: update in the diagnosis and management of thyroid disease. Compr Ther. 1990;16:20-7 pubmed
    ..The application of this information should allow clinicians to further refine their diagnostic accuracy and thereby enable them to proceed with an appropriate therapeutic or management program...
  51. Atri S, Chugh S, Goya S, Chugh K. Reversible atrioventricular blocks in thyroid storm. J Assoc Physicians India. 2011;59:178-9 pubmed
    ..Usually patients with AV blocks require pacing (temporary or permanent). Here we describe a case who developed AV blocks, did not undergo pacing, but recovered only on antithyroid treatment...
  52. Farror C, Wellby M, Beng C. Familial dysalbuminaemic hyperthyroxinaemia and other causes of euthyroid hyperthyroxinaemia. J R Soc Med. 1987;80:750-2 pubmed
    ..Since these anomalies may be more common than previously supposed, clinical awareness of the conditions is necessary to protect patients from the consequences of incorrect diagnosis of thyrotoxicosis...
  53. Reinehr T. Thyroid function in the nutritionally obese child and adolescent. Curr Opin Pediatr. 2011;23:415-20 pubmed publisher
    ..This review aimed to study the prevalence of disturbed thyroid hormone and TSH values in childhood obesity and the underlying pathophysiologic mechanisms linking obesity to thyroid function...