ESPE Abstracts

Thyroid hormone (TH) plays an integral role in regulating homeostasis in the body throughout life. Adequate levels of TH are particularly important in utero and early infancy to ensure normal neurodevelopment. Triiodothyronine or T3 is biologically form of TH. Transport of T3 into the cell is facilitated by specific TH specific transporter proteins of which monocarboxylate transporter 8(MCT8) is well described. MCT8 is encoded by SLC16A2 on chromosome Xq13.2. Mutations in this gene will results in a syndrome characterised by neurodevelopmental delay including extreme motor delay, hypotonia, disorganised movements, intellectual impairment and early death. Over a 150 mutations have been described to date. Biochemically, the most characteristic feature are elevated levels of T3 which result in thyrotoxic signs in peripheral tissues. Therapeutic options to treat MCT8 deficiency is limited and thus the mainstay of care is supportive management. In this poster, I will present the clinical, biochemical and radiological findings as well the unusual genetic findings of two brothers with MCT8 deficiency.