ea0092op-02-03 | Oral Session 2: Thyroid hormone action in the brain | ETA2023
Valcarcel-Hernandez Victor
, Guillen Yunta Marina
, Scanlan Thomas S.
, Barez-Lopez Soledad
, Guadano-Ferraz Ana
Inactivating mutations in the thyroid hormones (TH) transporter monocarboxylate transporter 8 (MCT8) lead to the X-linked rare disease named MCT8 deficiency or Allan-Herndon-Dudley Syndrome (AHDS). AHDS pathophysiology is characterized by peripheral hyperthyroidism and cerebral hypothyroidism, which results in severe neurological impairments. Although AHDS leads to a spectrum of severe endocrine and neurological alterations, treatment options for MCT8-deficient patients are li...