Olga Karapanou, Anastasios Papadimitriou
It has been more than 120 years since a committee of the Royal College of Physicians in London linked the paramount role of the thyroid gland to normal brain development.1 Currently, all developed countries and an increasing number of the developing ones have implemented the neonatal hypothyroidism screening test for early diagnosis …
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia …