ArticleAnnals of laboratory medicine2017
First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.
Article in Annals of laboratory medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate-Avoiding Unnecessary Treatment.International journal of neonatal screening · 2023Article
- Clinical characteristics of familial dysalbuminemic hyperthyroxinemia in Chinese patients and comparison of free thyroxine in three immunoassay methods.Frontiers in endocrinology · 2023Article
- Demonstration of reciprocal diurnal variation in human serum T3 and rT3 concentration demonstrated by mass spectrometric analysis and establishment of thyroid hormone reference intervals.Therapeutic advances in endocrinology and metabolism · 2020Article
- Laboratory Testing in Thyroid Conditions - Pitfalls and Clinical Utility.Annals of laboratory medicine · 2019Review
- Effect of Albumin Polymorphism on Thyroid Hormones: A Case Report and Literature Review.Cureus · 2018Article
- Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia.Frontiers in endocrinology · 2017Review
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 to 1.4-fold) and variable levels of free T4 according to different assay methods. Upon Sanger sequencing of her ALB, a heterozygous c.725G>A (p.Arg242His) variant was identified. The patient's father and eldest son had similar thyroid function test results and were confirmed to have the same variant. Although the prevalence of FDH might be very low in the Korean population, clinical suspicion is important to avoid unnecessary evaluation and treatment.
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