Familial dysalbuminemic hyperthyroxinemia: One case report and literature review / 中华内分泌代谢杂志

ABSTRACT

This article reported a patient with familial dysalbuminemic hyperthyroxinemia (FDH). A 38-year-old male occasionally found to have increased FT 4 level with normal FT 3 and TSH on routine physical examination was admitted to our hospital. Thyroid function was rechecked and found that the levels of TT 4, FT 4, rT 3 were increased, while TT 3, FT 3, TSH, TRAb, TPOAb and TGAb were normal. The patient had no other symptoms of thyrotoxicosis except occasional diarrhea. Gene sequencing revealed a heterozygous mutation of c. 653G>A (p.R218H) in exon 7 of albumin (ALB) gene, therefore the patient was confirmed as a case of FDH.