A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH)

Sakiko Kobayashi, Jaeduk Yoshimura Noh, Taeko Shimizu, Tomoaki Sato, Isao Kurihara, Kiminori Sugino, Hiroshi Itoh, Koichi Ito

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition and is the most commonly inherited euthyroid hyperthyroxinemia in Caucasians. However, it is extremely rare in Asian populations. A 30-year-old Japanese woman, who was incidentally found to have apparent thyroid dysfunction, was admitted to our hospital in 2004. She had extremely elevated serum free thyroxine (FT4), moderately elevated free triiodothyronine (FT3), and normal thyroid-stimulating hormone (TSH). Clinical thyroid examination revealed no abnormalities other than small goiter. Anti-thyroglobulin antibody titer was positive, but titers of other anti-thyroid antibodies, including antithyroid peroxidase antibody, TSH receptor antibodies, and thyroid-stimulating antibody, were negative. Levels of FT3, FT4, and TSH were similar when measured by three different laboratory kits, and FT4 was still high when measured by equilibrium dialysis. By affinity chromatography, FT4, TT4, and albumin were extracted to the same fraction, and the levels of FT4 and TT4 were extremely high. By combination of reversed phase liquid chromatography and mass spectrometry techniques, the amino acid sequence of human serum albumin was determined. The patient was found to be a heterozygote for p.R218P mutation in the gene for human serum albumin and was diagnosed as FDH. This patient, who harbored the p.R218P mutation in the albumin gene, is the fifth case report of FDH in Japan. This condition is characterized by extremely high serum FT4 and moderately high serum FT3 levels. Although rare, FDH should be considered in the differential diagnosis for syndrome of inappropriate secretion of TSH (SITSH) in Japan.

Original languageEnglish
Pages (from-to)207-212
Number of pages6
JournalEndocrine Journal
Volume64
Issue number2
DOIs
Publication statusPublished - 2017

Fingerprint

Hyperpituitarism
Familial Dysalbuminemic Hyperthyroxinemia
Japan
Differential Diagnosis
Thyroid Gland
Thyrotropin
Serum Albumin
Albumins
Hyperthyroxinemia
Serum
Thyroid-Stimulating Immunoglobulins
Thyrotropin Receptors
Mutation
Antibodies
Goiter
Triiodothyronine
Reverse-Phase Chromatography
Heterozygote
Thyroxine
Affinity Chromatography

Keywords

  • Albumin
  • Familial
  • Hyperthyroxinemia
  • Syndrome of inappropriate secretion of TSH
  • Thyroid

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan : FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH). / Kobayashi, Sakiko; Noh, Jaeduk Yoshimura; Shimizu, Taeko; Sato, Tomoaki; Kurihara, Isao; Sugino, Kiminori; Itoh, Hiroshi; Ito, Koichi.

In: Endocrine Journal, Vol. 64, No. 2, 2017, p. 207-212.

Research output: Contribution to journalArticle

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abstract = "Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition and is the most commonly inherited euthyroid hyperthyroxinemia in Caucasians. However, it is extremely rare in Asian populations. A 30-year-old Japanese woman, who was incidentally found to have apparent thyroid dysfunction, was admitted to our hospital in 2004. She had extremely elevated serum free thyroxine (FT4), moderately elevated free triiodothyronine (FT3), and normal thyroid-stimulating hormone (TSH). Clinical thyroid examination revealed no abnormalities other than small goiter. Anti-thyroglobulin antibody titer was positive, but titers of other anti-thyroid antibodies, including antithyroid peroxidase antibody, TSH receptor antibodies, and thyroid-stimulating antibody, were negative. Levels of FT3, FT4, and TSH were similar when measured by three different laboratory kits, and FT4 was still high when measured by equilibrium dialysis. By affinity chromatography, FT4, TT4, and albumin were extracted to the same fraction, and the levels of FT4 and TT4 were extremely high. By combination of reversed phase liquid chromatography and mass spectrometry techniques, the amino acid sequence of human serum albumin was determined. The patient was found to be a heterozygote for p.R218P mutation in the gene for human serum albumin and was diagnosed as FDH. This patient, who harbored the p.R218P mutation in the albumin gene, is the fifth case report of FDH in Japan. This condition is characterized by extremely high serum FT4 and moderately high serum FT3 levels. Although rare, FDH should be considered in the differential diagnosis for syndrome of inappropriate secretion of TSH (SITSH) in Japan.",
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AU - Sugino, Kiminori

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