Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age

How gold standard assays may be misleading

Abha Choudhary, Chutintorn Sriphrapradang, Samuel Refetoff, Zoltan Antal

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)241-245
Number of pages5
JournalJournal of Pediatric Endocrinology and Metabolism
Volume28
Issue number1-2
DOIs
StatePublished - Jan 1 2015

Fingerprint

Familial Dysalbuminemic Hyperthyroxinemia
Signs and Symptoms
Hyperthyroxinemia
Tooth
Thyroid Gland
Autoimmune Thyroiditis
Hyperthyroidism
Tandem Mass Spectrometry
Thyroxine
Dialysis
High Pressure Liquid Chromatography
Serum
Therapeutics

Keywords

  • autoimmune thyroiditis
  • familial dysalbuminemic hyperthyroxinemia
  • free thyroxine assay
  • hyperthyroxinemia

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age : How gold standard assays may be misleading. / Choudhary, Abha; Sriphrapradang, Chutintorn; Refetoff, Samuel; Antal, Zoltan.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 28, No. 1-2, 01.01.2015, p. 241-245.

Research output: Contribution to journalArticle

@article{a6760ec211db49a39e17726432ca4acd,
title = "Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: How gold standard assays may be misleading",
abstract = "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.",
keywords = "autoimmune thyroiditis, familial dysalbuminemic hyperthyroxinemia, free thyroxine assay, hyperthyroxinemia",
author = "Abha Choudhary and Chutintorn Sriphrapradang and Samuel Refetoff and Zoltan Antal",
year = "2015",
month = "1",
day = "1",
doi = "10.1515/jpem-2014-0019",
language = "English (US)",
volume = "28",
pages = "241--245",
journal = "Journal of Pediatric Endocrinology and Metabolism",
issn = "0334-018X",
publisher = "Walter de Gruyter GmbH & Co. KG",
number = "1-2",

}

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

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

UR - http://www.scopus.com/inward/record.url?scp=84920086433&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84920086433&partnerID=8YFLogxK

U2 - 10.1515/jpem-2014-0019

DO - 10.1515/jpem-2014-0019

M3 - Article

VL - 28

SP - 241

EP - 245

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

SN - 0334-018X

IS - 1-2

ER -