Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones

ConclusionsThyroid hormone resistance continues to be an un(der)- and misdiagnosed thyroid condition whose management is particularly challenging when associated with autoimmune thyroid disease. Whole exome sequencing has the potential to identifyTHRB pathogenic variants as incidental findings. Reporting such secondary findings from genomic testing may be particularly important in the context of the rarity of the condition and the potential clinical consequences of misdiagnosis and mistreatment.

Source: Thyroid Research - July 14, 2019 Category: Endocrinology Source Type: research