Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.
Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.
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DOI：
10.1515/jpem-2014-0019
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发表时间：
2015-01
期刊：
影响因子：
--
通讯作者：
Antal Z
中科院分区：
文献类型：
--
作者：
Choudhary A;Sriphrapradang C;Refetoff S;Antal Z
在这里，我们报告一个年轻的女孩谁有模糊的迹象和症状可能归因于甲状腺机能亢进，被发现有自身免疫性甲状腺炎和甲状腺机能亢进血症。当用标准测定法和平衡透析/高压液相色谱-串联质谱法测定时，血清游离甲状腺素水平升高持续存在。临床症状，与不一致的甲状腺测试结果，造成了一个诊断困境，最初导致不必要的额外评估。她最终被发现有家族性白蛋白异常高甲状腺素血症（FDH），不需要治疗。本病例突出了评估儿童的固有困难，这些儿童通常有模糊的甲状腺功能障碍体征和症状，此外，他们还有不相关的获得性（自身免疫性）和遗传性（FDH）缺陷。包括对家庭直系成员的检测的好处被强调。
Here we report the case of a young girl who had vague signs and symptoms potentially attributable to hyperthyroidism and was found to have autoimmune thyroiditis and hyperthyroxinemia. The elevated serum free thyroxine levels were persistent when measured by both standard assays and equilibrium dialysis/high-pressure liquid chromatography-tandem mass spectrometry. The clinical symptoms, with discordant thyroid test results, created a diagnostic dilemma that led initially to unnecessary additional evaluations. She was ultimately found to have familial dysalbuminemic hyperthyroxinemia (FDH) and required no therapy. This case highlights the inherent difficulties in evaluating children, who typically have vague signs and symptoms of thyroid dysfunction, when, in addition, they have an unrelated acquired (autoimmune) as well as a genetic (FDH) defect. The benefit of including testing for immediate members of the family is emphasized.