Article

Case Report

Ann Lab Med 2017; 37(1): 63-65

Published online January 1, 2017 https://doi.org/10.3343/alm.2017.37.1.63

Copyright © Korean Society for Laboratory Medicine.

First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant

Yoon Young Cho, M.D.1,2,*, Ju-Sun Song, M.D.3,*, Hyung-Doo Park, M.D.3, Young Nam Kim, M.D.1, Hye-In Kim, M.D.1, Tae Hyuk Kim, M.D.1, Jae Hoon Chung, M.D.1, Chang-Seok Ki, M.D.3, and Sun Wook Kim, M.D.1

Division of Endocrinology and Metabolism1, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Division of Endocrinology and Metabolism2, Department of Medicine, Gyeongsang National University School of Medicine, Jinju; Department of Laboratory Medicine and Genetics3, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Correspondence to: Sun Wook Kim
Division of Endocrinology and Metabolism, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81, Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-10-9933-1653 Fax: +82-2-3410-3849 E-mail: swkimmd@skku.edu
Co-corresponding author: Chang-Seok Ki
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81, Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2709 Fax: +82-2-3410-2719 E-mail: changski@skku.edu
*The first two authors equally contributed to this work.

Received: April 4, 2016; Revised: May 20, 2016; Accepted: October 19, 2016

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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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.

Keywords: Abnormal thyroid function test, Albumin gene, Familial dysalbuminemic hyperthyroxinemia, Variant

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