Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the < b > < i > THRB < /i > < /b > Gene Causing Resistance to Thyroid Hormone Syndrome

Conclusion: Variable results of TFTs on some immunoassays can be a cause of RTH β diagnostic delay, but the genotype-phenotype correlation in this family and functional studies support p.L428V as a novelTHRB variant expanding the spectrum of gene variants causing RTH β. In vivo, rather than in vitro, functional assays may be required to demonstrate the dominant negative action ofTHRB variants.Eur Thyroid J
Source: European Thyroid Journal - Category: Endocrinology Source Type: research