28.06.2021.
Case Reports
A rare thyroid disorder mimicking mitochondrial disease
Introduction. Patients affected with Allan-Herndon-Dudley syndrome (AHDS) have a deficiency of monocarboxylate transporter 8 (MCT8), a protein primarily responsible for the transport of triiodothyronine (T3) into the brain. This X-linked disorder affects almost exclusively males with clinical presentation encompassing developmental delay, axial hyp...
By Adrijan Sarajlija, Slađana Todorović, Biljana Alimpić, Maja Čehić