hrp0092p3-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Extreme Hypercalcaemia: Watch for Glycogen Storage Disease Type 1a with Hyperinsulinism

christesen henrik , Nielsen Rasmus G , Lund Allan M , Cananguez Arlen A , Schou Anders J

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

hrp0097t2 | Section | ESPE2023

Effects of tiratricol treatment withdrawal in MCT8 deficiency: ReTRIACt Trial

Freund Matthijs , Chatterjee Krishna , van Geest Ferdy , van der Most Floor , Bowers Dominic , Persson Anders , J Bauer Andrew , Edward Visser W.

We introduce the ReTRIACt Trial (NCT05579327) of tiratricol (Triac) for MCT8-deficiency, a rare X-linked disease resulting from disordered thyroid hormone transport and characterized by profound neurodevelopmental delay and features of chronic peripheral thyrotoxicosis. The ReTRIACt Trial aims to verify the effects of tiratricol observed in previous studies. It is a double-blind, randomized, multicenter, placebo-controlled study to evaluate the effects of tiratricol discontinu...