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...

hrp0082p1-d1-199 | Reproduction | ESPE2014

Associations of Vascular Biomarkers and the Somatotrophic Axis with Carotid Ultrasound and Echocardiography Findings in Relation to Turner Arteriopathy

Ucar Ahmet , Oz Fahrettin , Bas Firdevs , Oflaz Huseyin , Nisli Kemal , Tugrul Melike , Darendeliler Feyza , Saka Nurcin , Poyrazoglu Sukran , Bundak Ruveyde

Background: Turner syndrome (TS) is associated with increased arterial stiffness. To date, factors associated with the ontogeny of Turner arteriopathy remain unclear.Objective and hypotheses: To assess the associations of vascular biomarkers and the somatotrophic axis with arterial stiffness indices, and left heart size, in normotensive ‘dipper’ TS.Method: Sixty-one patients with uncomplicated normotentensive &#1...