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. 2024 May 14;37(6):532-535.
doi: 10.1515/jpem-2023-0506. Print 2024 Jun 25.

Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children

Doga Turkkahraman  1 , Merve Gullu  1 , Suat Tekin  1 , Tarkan Kalkan  2
Affiliations

Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children

Doga Turkkahraman et al. J Pediatr Endocrinol Metab. .

Abstract

Objectives: To investigate albumin (ALB) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH).

Methods: Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed.

Results: In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene.

Conclusions: FDH is an asymptomatic condition however there is still a risk of misdiagnosis and unnecessary treatment. Therefore, if FDH is considered, initial ALB hotspot sequencing as a rapid and simple method is recommended instead of complex and expensive laboratory and imaging techniques.

Keywords: R242H variation; albumin gene; familial dysalbuminemic hyperthyroxinemia.

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References

    1. Schussler, GC. The thyroxine-binding proteins [published correction appears in Thyroid 2000 Apr;10(4):372]. Thyroid 2000;10:141–9. https://doi.org/10.1089/thy.2000.10.141 . - DOI
    1. Peters, T. All about albumin: biochemistry, genetics, and medical applications . San Diego, CA: Academic Press; 1995:76–132 pp.
    1. Loun, B, Hage, DS. Characterization of thyroxine-albumin binding using high-performance affinity chromatography. II. Comparison of the binding of thyroxine, triiodothyronines and related compounds at the warfarin and indole sites of human serum albumin. J Chromatogr B Biomed Appl 1995;665:303–14. https://doi.org/10.1016/0378-4347(94)00547-i . - DOI
    1. Petersen, CE, Ha, CE, Jameson, DM, Bhagavan, NV. Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. J Biol Chem 1996;271:19110–17. https://doi.org/10.1074/jbc.271.32.19110 . - DOI
    1. Minghetti, PP, Ruffner, DE, Kuang, WJ, Dennison, OE, Hawkins, JW, Beattie, WG, et al.. A molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem 1986;261:6747–57. https://doi.org/10.1016/s0021-9258(19)62680-3 . - DOI

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