Thyroid hormone pattern in Familial Dysalbuminemic Hyperthyroxinemia (R218H mutation) on different assay platforms

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A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia

CONTEXT Familial dysalbuminemic hyperthyroxinemia, characterized by abnormal circulating albumin with increased T4 affinity, causes artefactual elevation of free T4 concentrations in euthyroid individuals. OBJECTIVE Four unrelated index cases with discordant thyroid function tests in different assay platforms were investigated. DESIGN AND RESULTS Laboratory biochemical assessment, radiolabe...

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Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge.

1. Barassi A, Pallotti F, Melzi d’Eril GV. Biological variation of procalcitonin in healthy individuals. Clin Chem 2004;50:1878. 2. Assicot M, Gendrel D, Carsin H, Raymond J, Guilbaud J, Bohuon C. High serum procalcitonin concentrations in patients with sepsis and infection. Lancet 1993;341:515–8. 3. Stolz D, Christ-Crain M, Bingisser R, Leuppi J, Miedinger D, Müller C, et al. Antibiotic treatm...

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Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia.

Cartwright et al. recently showed that current commercially available free thyroxine (FT4) 1 methods yield spuriously high results in individuals with familial dysalbuminemic hyperthyroxinemia (FDH) (1). In particular, variants of the “one-step labeled analog” technique have been notorious in this respect, whereas the 2-step approach, in which the sample is washed away before the antibody-bound...

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Prevalence of familial dysalbuminemic hyperthyroxinemia in serum samples received for thyroid testing.

The prevalence of familial dysalbuminemic hyperthyroxinemia (FDH), a condition sometimes mistaken for hyperthyroidism, has not been clearly established. I present a study of the prevalence of FDH in serum samples received for thyroid-function tests in a reference laboratory. A prospective study of 15,674 serum samples was carried out over 24 months, of which 13,232 cases were from women (84.42%...

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Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.

Human serum albumin (HSA) is the major protein component of blood plasma and serves as a transporter for thyroxine and other hydrophobic compounds such as fatty acids and bilirubin. We report here a structural characterization of HSA-thyroxine interactions. Using crystallographic analyses we have identified four binding sites for thyroxine on HSA distributed in subdomains IIA, IIIA, and IIIB. M...

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ژورنال

عنوان ژورنال: Endocrine Abstracts

سال: 2018

ISSN: 1479-6848

DOI: 10.1530/endoabs.59.cc10