hrp0098rfc12.1 | Thyroid | ESPE2024

From neurology to endocrine: Misdiagnosed MCT8 deficiency

Denkboy Öngen Yasemin , Tütüncü Toker Rabia , Uysal Fahrettin , Nursoy Hatice , Eren Erdal

The monocarboxylate transporter 8 (MCT8) is essential for transporting thyroid hormones to the brain. MCT8 deficiency occurs in SLC16A2 gene variants; patients usually present with neurological symptoms and are diagnosed with cerebral palsy or central hypothyroidism. Recently, 3,3',5-triiodothyroacetic acid (Triac) is used in treatment. This study aimed to evaluate the diagnosis and follow-up processes of five MCT8 deficiency patients. Five patients with variants in the S...