hrp0097p1-386 | Thyroid | ESPE2023

Very early diagnosis of Monocarboxylate Transporter 8 (MCT8) Deficiency by measuring Free Triiodothyronine (fT3) in Infancy

Dubinski Ilja , Weigand Heike , Schmidt Heinrich

Background: Monocarboxylate-transporter 8 (MCT8) deficiency, also known as Allan-Herndon-Dudley syndrome (AHDS), is associated with severe motoric and intellectual developmental delay. The pathophysiology is characterized by central hypothyroidism (due to transporter defect) and peripheral hyperthyroidism with thyrotoxicosis. There is often an increase in the peripheral T3 values and a decrease in the T4 values. In addition, numerous comorbidities can be held ...