Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children

J Pediatr Endocrinol Metab. 2024 May 14;37(6):532-535. doi: 10.1515/jpem-2023-0506. Print 2024 Jun 25.

Abstract

Objectives: To investigate albumin (ALB) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH).

Methods: Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed.

Results: In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene.

Conclusions: FDH is an asymptomatic condition however there is still a risk of misdiagnosis and unnecessary treatment. Therefore, if FDH is considered, initial ALB hotspot sequencing as a rapid and simple method is recommended instead of complex and expensive laboratory and imaging techniques.

Keywords: R242H variation; albumin gene; familial dysalbuminemic hyperthyroxinemia.

MeSH terms

  • Adolescent
  • Biomarkers / blood
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Hyperthyroxinemia, Familial Dysalbuminemic* / diagnosis
  • Hyperthyroxinemia, Familial Dysalbuminemic* / genetics
  • Infant
  • Male
  • Mutation
  • Prognosis
  • Serum Albumin, Human / analysis
  • Serum Albumin, Human / genetics
  • Turkey

Substances

  • Serum Albumin, Human
  • Biomarkers
  • ALB protein, human