Familial Dysalbuminemic Hyperthyroxinemia as a Cause for Discordant Thyroid Function Tests.
Matthew Jun Min TingRui ZhangEe Mun LimBryan K WardScott G WilsonJohn P WalshPublished in: Journal of the Endocrine Society (2021)
Familial dysalbuminemic hyperthyroxinemia is a potential cause of discordant thyroid function tests. Clinicians suspecting protein-binding abnormalities may further investigate using reference methods such as LC-MS/MS and equilibrium dialysis if available. The increasing accessibility of exome sequencing offers a cost-effective method of diagnosing genetic variants that cause discordant thyroid function tests.