hrp0094p2-465 | Thyroid | ESPE2021
, Muradyan Irina
Introduction: Allan-Herndon-Dudley syndrome (AHDS) is an X linked disorder – mutation of monocarboxylate transporter 8 (MCT8) gene. It leads to a severe psychomotor retardation, significant hypotonia of the skeletal muscles, spastic or dystonic quadriplegia. MCT-8 is responsible for the uptake of T3 by neurons of CNS. AHDS is characterized by increased T3 concentration, increased T3 / T4 ratio, TSH not depressed, even slightly elevated levels. Because of impossibility f...