hrp0089p3-p093 | Diabetes & Insulin P3 | ESPE2018

Symptomatic Cerebral Infarction: A Rare Complication of Diabetic Ketoacidosis

Celmeli Gamze , Parlak Mesut , Akcurin Sema , Bircan Iffet

Diabetic ketoacidosis (DKA) is accompanied by intracerebral complications from 0.3% to 1%. Cerebrovascular events account for 10% of intracerebral complications. Our aim is to present a case of symptomatic cerebral infarction as a serious complication of DKA and draw attention to the management of DKA treatment. A 3.5-years-old male patient was referred to our department with DKA for further evaluation and treatment. Before coming to our center, insulin and sodium bicarbonate ...

hrp0086p1-p466 | Fat Metabolism and Obesity P1 | ESPE2016

Remarkable Increase in the Prevalence of Overweight and Obesity among School Age Children in Antalya, Turkey, between 2003 and 2015

Celmeli Gamze , Curek Yusuf , Arslan Zumrut , Yardimsever Mehmet , Koyun Mustafa , Akcurin Sema , Bircan Iffet

Background: The prevalence of childhood obesity is increasing all over the world and leading to an increase in obesity-related health problems such as adult obesity, cardiovascular diseases, type 2 diabetes and depression. There is no nationwide systematic study investigating obesity trends in Turkish children.Objective and hypotheses: The aim of this study is to determine the prevalence of overweight and obesity among school age children, to compare the...

hrp0082p2-d2-577 | Sex Development (1) | ESPE2014

A Novel Cyp19a1 Gene Mutation Identified in Three Turkish Families

Akcurin Sema , Durmaz Erdem , Kim Woo-Young , Turkkahraman Doga , Shin Joe-Gook , Lee Su-Jun

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

hrp0082p3-d2-860 | Growth (3) | ESPE2014

Clinical Expression of Familial Williams–Beuren Syndrome in a Turkish Family

Parlak Mesut , Nur Banu Guzel , Mihci Ercan , Durmaz Erdem , Karauzum Sibel Berker , Akcurin Sema , Bircan Iffet

Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial shor...