hrp0089p3-p234 | Growth & Syndromes P3 | ESPE2018

Hepatic Glycogen Synthasedeficiency Associated with Growth Hormone Deficiency: A Case Report

Doneray Hakan , Ozden Ayse , Tosun Ilker

Objective: Type 0 glycogen storage disease (GSD0) is caused by deficiency of the hepatic isoform of glycogen synthase. Growth hormone deficiency in this disorder has not been reported.Case: A two-year old girl who had suffered from occasional morning convulsions was admitted to our clinic. Her length and body weight were measured as 80 cm (−2.4 S.D.) and 11.3 kg (−1.3 SD), respectively. Physical examination was unremarkable. Me...

hrp0094p2-95 | Bone, growth plate and mineral metabolism | ESPE2021

Effect of cholecalciferol treatment on serum FGF-23, vitamin D-binding globulin and α-klotho levels in children with vitamin D deficiency

Tosun Ilker , Orbak Zerrin , Doneray Hakan , Ozturk Nurinnisa ,

Introduction and Aim: FGF-23 is a hormone that works by inhibiting phosphorus reabsorption in kidneys, and systematic regulation of phosphate homeostasis by FGF23 depends on the activity of the membrane protein Klotho. It affects the active vitamin level according to the bioactive free vitamin hypothesis, which binds DVBP to vitamin D and prolongs its half-life. In this study, it was aimed to investigate 1.25 (OH) Vitamin D, Vitamin D Binding Protein, FGF-23 a...