Peripheral thyrotoxicosis due to MCT8 deficiency

Peripheral thyrotoxicosis due to monocarboxylate transporter 8 (MCT8) deficiency is a hypermetabolic clinical state occurring in individuals with Allan-Herndon-Dudley syndrome, an X-linked genetic disorder caused by pathogenic mutations in the *SLC16A2* gene Consequently, marked elevations in circulating free triiodothyronine (T3) excessively stimulate peripheral organ systems, notably the cardiovascular and musculoskeletal systems This systemic thyroid hormone excess manifests clinically with c...

Peripheral thyrotoxicosis due to monocarboxylate transporter 8 (MCT8) deficiency is a hypermetabolic clinical state occurring in individuals with Allan-Herndon-Dudley syndrome, an X-linked genetic disorder caused by pathogenic mutations in the *SLC16A2* gene While the loss of functional MCT8 impairs thyroid hormone uptake across the blood-brain barrier—causing central nervous system hypothyroidism and severe neurodevelopmental impairment—non-neural tissues utilize alternate transporters to take ...

While the loss of functional MCT8 impairs thyroid hormone uptake across the blood-brain barrier—causing central nervous system hypothyroidism and severe neurodevelopmental impairment—non-neural tissues utilize alternate transporters to take up thyroid hormones

Consequently, marked elevations in circulating free triiodothyronine (T3) excessively stimulate peripheral organ systems, notably the cardiovascular and musculoskeletal systems

This systemic thyroid hormone excess manifests clinically with chronic tachycardia, progressive muscle wasting, elevated energy expenditure, poor weight gain or failure to thrive, and long-term cardiovascular strain

This systemic thyroid hormone excess manifests clinically with chronic tachycardia, progressive muscle wasting, elevated energy expenditure, poor weight gain or failure to thrive, and long-term cardiovascular strain