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

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.