Thyroid hormone resistance alfa (THRA)
Thyroid hormone resistance due to pathogenic variants in thyroid hormone receptor alpha (THRA) is rare and descriptions of patients are sparse. The disorder is probably under-diagnosed as patients may have normal thyroid function tests. Treatment with thyroxine in childhood improves clinical symptoms. However, it is not clear if treatment has beneficial effects if started in adulthood.
The aim of this study is to test the effect of L-T4 and L-T3 in adult patients with undiagnosed THRA.