TY - JOUR
T1 - Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age
T2 - How gold standard assays may be misleading
AU - Choudhary, Abha
AU - Sriphrapradang, Chutintorn
AU - Refetoff, Samuel
AU - Antal, Zoltan
N1 - Funding Information:
Acknowledgments: This work was supported in part by grant DK15070 from the National Institute of Diabetes and Digestive and Kidney Diseases.
PY - 2015/1/1
Y1 - 2015/1/1
N2 - 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.
AB - 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.
KW - autoimmune thyroiditis
KW - familial dysalbuminemic hyperthyroxinemia
KW - free thyroxine assay
KW - hyperthyroxinemia
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U2 - 10.1515/jpem-2014-0019
DO - 10.1515/jpem-2014-0019
M3 - Article
C2 - 25153218
AN - SCOPUS:84920086433
SN - 0334-018X
VL - 28
SP - 241
EP - 245
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 1-2
ER -