A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

By A. Dumitrescu, X. Liao, T. B. Best, K. Brockmann, S. Refetoff. American Journal of Human Genetics, 2004

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Thyroid hormone regulation of metabolism. (2014, background): “The MCT8 gene is located on the X chromosome (66, 84), and males with MCT8 gene mutations have neurologic abnormalities including dystonia and developmental delay, with progression to quadriplegia (18).”
Mechanisms of thyroid hormone action. (2012, positive): “When MCT8 was sequenced in these patients, inactivating mutations were identified in some individuals (54, 55).”
Thyroid hormone receptors in brain development and function (2007, background): “To what extent deficient transfer of T 3 from glial cells to neurons plays a part in this syndrome is a matter of debate”
Guidelines for the Treatment of Hypothyroidism: Prepared by the American Thyroid Association Task Force on Thyroid Hormone Replacement (2014, positive): “These individuals have peripheral hypermetabolism and abnormal serum thyroid levels with elevated serum T3, low serum T4, and slightly high TSH (486,500,501).”