hrp0089p2-p106 | Diabetes & Insulin P2 | ESPE2018

Congenital Hyperinsulinism: Clinical and Molecular Characteristics – Fluorine-18-L-Dihydroxyphenylalanine Positron Emission Tomography (F-DOPA PET) Scan Results – Treatment Responses and Short Term Outcomes of 5 Patients

Turan Hande , Dagdeviren Cakir Aydilek , Cayir Atilla , De Franco Elisa , Ellard Sian , Sonmezoglu Kerim , Ercan Oya , Olcay Evliyaoglu Saadet

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic ╬▓cells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...

hrp0092p2-5 | Adrenals and HPA Axis | ESPE2019

Clinical Phenotype and Genotype Association in Patients with 21-hydroxylase Deficiency

Aghayeva Asmar , Turan Hande , Toksoy Guven , Dagdeviren Cakir Aydilek , Berkay Ezgi , Gunes Nilay , Evliyaoglu Olcay , Uyguner Zehra Oya , Dundar Munis , Tuysuz Beyhan , Ercan Oya

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessively transmitted disease and 95% of CAH cases are due to 21-hydroxylase deficiency (21-OHD). There are more than 100 mutations that cause CAH due to 21-OHD and the clinical expression of the disease is reported to correlate with mutated alleles.The aim: The aim of this study was to investigate responsible mutations and then to evaluate genotype...

hrp0092p2-137 | Fat, Metabolism and Obesity | ESPE2019

Clinical Characteristics and Response to Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Evliyaoglu Olcay , Dagdeviren Cakir Aydilek , Bas Firdevs , Akin Onur , Siklar Zeynep , Özcabi Bahar , Berberoglu Merih , Kardelen Asli Derya , Bayramoglu Elvan , Poyrazoglu Sükran , Aydin Murat , Ergül Türel Ayça , Göksen Damla , Bolu Semih , Aycan Zehra , Tüysüz Beyhan , Ercan Oya

Introduction and aim: Prader-Willi syndrome(PWS), is a genetic disorder caused by the absence of paternal genes located on chromosome 15q11.2-q13. In this multi-central study; patients with PWS were followed for 2 years. Initial clinical and laboratory findings, growth hormone(GH) treatments and their responses were evaluated.Patients and Methods: 54 patients from 10 pediatric endocrine centers were involved and data was...