ESPE Abstracts

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The standard of care for the treatment of hypothyroidism is the administration of daily tablets of levothyroxine (LT4) at doses that normalize serum TSH levels. In most patients, this approach elevates serum thyroid hormone (TH) levels and eliminates symptoms of overt hypothyroidism. Nonetheless, treatment with LT4 in adults does not fully normalize the TH economy. Despite normal TSH levels, many patients exhibit a reduction in the serum T3/T4 ratio due to a relative excess of...

Thyroid hormone (TH) transporters are mandatory for proper TH metabolism and action as they facilitate the transmembrane passage of both T4 and T3. Inactivating mutations in the highly specific TH transporter MCT8 (encoded by the X-linked SLC16A2 gene) lead to severe intellectual and motor disabilities presumably due to a strongly diminished TH transport into the CNS and, consequently, an impaired neural development (Allan-Herndon-Dudley Syndrome, AHDS). Apart from a central T...