Hideyuki Iwayama, Hiroki Kakita, Masumi Iwasa, Shinsuke Adachi, Kyoko Takano, Masahiro Kikuchi, Yasuko Fujisawa, Hitoshi Osaka, Yasumasa Yamada, Akihisa Okumura, Khemraj Hirani, Roy E Weiss, Samuel Refetoff
Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X-chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transport across the cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as the inability of standard biomarkers of neonatal screening to provide early detection. In this study, we report, for the first time, the ability to detect MCT8 deficiency at birth using dried blood spot (DBS) samples...
September 2021: Thyroid: Official Journal of the American Thyroid Association