hrp0086p2-p526 | Fat Metabolism and Obesity P2 | ESPE2016

Prevalence of Overweight and Obesity in Children and Adolescents in Izmir, Western Turkey

Nalbantoglu Ozlem , Ozkan Behzat , Tunc Selma , Apa Hursit

Background: Although the highest prevelance rates of childhood obesity and overweihgt have been observed in developed countries, its prevelance is reported to be increasing in developing countries as well. Prevelance of obesity and overweight in different regions of Turkey ranges between 1.6–7.8 and 9.9–17.6 respectively.Objective and hypotheses: The purpose of this study was to investigate the prevelance of obesity and overweight among student...

hrp0092p3-124 | Fat, Metabolism and Obesity | ESPE2019

Early Onset Monogenic Obesity: Two Cases with Homozygous Mutation in Lepr Gene

Nalbantoglu Ozlem , Acar Sezer , Koprulu Ozge , Arslan Gulcin , Ozkaya Beyhan , Hazan Filiz , Gursoy Semra , Ozkan Behzat

Introduction: Although the majority of the cases with obesity have a multifactorial etiology, rare monogenic forms of obesity exist. Several genetic disorders have been described that lead to early onset monogenic obesity. Leptin (LEP), leptin receptor (LEPR), melanocortin 4 receptor (MC4R), proprotein converting protein subtilisin / kexin-type 1 (PCSK1) and proopiomelanocortin (POMC) are the genetic mutations that have been most frequently shown to cause mono...

hrp0089p3-p276 | Multisystem Endocrine Disorders P3 | ESPE2018

Autoimmunepolyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Case Report

Celik Tanju , Nalbantoglu Ozlem , Gursoy Semra , Sangun Ozlem , Arslan Gulcin , Ozkan Behzat

Introduction: Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare hereditary disorder with autoimmun manifestations affecting both endocrine and non-endocrine tissues. It is caused by mutations in the autoimmune regulatory (AIRE) gene which is defined by the presence of two of the three major components: Chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and Addison’s disease. Clinical manifestations may be developed during...

hrp0089p2-p308 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Inactivating Compound Heterozygous Mutation in KISS1R/GPR54: Cases of Three Siblings

Nalbantoglu Ozlem , Arslan Gulcin , Koprulu Ozge , Hazan Fılız , Gursoy Semra , Ozkan Behzat

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...

hrp0089p2-p376 | Thyroid P2 | ESPE2018

Long Term Monitoring of Graves Disease in Children and Adolescents: Single Center Experience

Tunc Selma , Koprulu Ozge , Ortac Hatice , Nalbantoğlu Ozlem , Dizdarer Ceyhun , Demir Korcan , Ozkan Behzat

Introduction: Antithyroid Drugs (ATD) are generally preferred at the onset of treatment with no consensus on the duration of ATD (propylthiouracil, methymasole) treatment Graves disease in children.Objective: Examining the effectiveness of ATD treatment on children and adolescents and determining the risk factors of remission and relapse.Method: A total of 45 cases with ages varying between 1–18 years diagnosed with Graves dis...

hrp0086p2-p72 | Adrenal P2 | ESPE2016

The ımpact of 21 Hydroxylase Deficiency on Cardiac Repolarization Changes in Children with 21-hydroxylase-deficient Congenital Adrenal Hyperplasia

Korkmaz Huseyin Anıl , Ozdemir Rahmi , Kucuk Mehmet , Karadeniz Cem , Meşe Timur , Ozkan Behzat

Background: To the best of our knowledge, no study has been conducted to assess the impact of 21 hydroxylase deficiency and hidrocortisone treatment on electrocardiographic measures in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.Objective and hypotheses: The purpose of this study is to compare the12-lead electrocardiographic measures such as PWd, QT interval, QTd, Tp-e interval, Tp-e/QT and Tp-e/QTc ratio in patients of 21-hydro...

hrp0086p1-p233 | Diabetes P1 | ESPE2016

Higher-Than-Conventional Subcutaneous Regular Insulin Doses Following Diabetic Ketoacidosis are Associated with Better Short-term Glycemic Control

Bag Ozlem , Tunc Selma , Nalbantoglu Ozlem , Ecevit Cigdem , Ozturk Aysel , Ozkan Behzat , Demir Korcan

Background: While some guidelines recommend 0.5–1.0 units/kg per day of subcutaneous insulin following resolution of diabetic ketoacidosis (DKA), up to 2 units/kg/day are used in various centers.Objective and hypotheses: To test the hypothesis that higher initial insulin doses would be more efficient during first 48 h of subcutaneous insulin therapy after DKA in cases with new-onset type 1 diabetes.Method: Records of patients ...

hrp0082p2-d3-357 | Diabetes (2) | ESPE2014

Early-Onset Autoinflammatory Partial Lipodystrophy Characterized by Recurrent Fever and Rash: Candle Syndrome

Demir Korcan , Yildiz Melek , Makay Balahan , Korkmaz Huseyin Anil , Elmas Ozlem Nalbantoglu , Ozkan Behzat

Background: CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome is a recently described autoinflammatory disease that manifests in early infancy with recurrent fever, violaceous swelling of the eyelids, purpuric skin lesions, hypochromic anemia and elevated acute phase reactants. It is autosomal recessively inherited and associated with partial lipodystrophy, growth retardation and hepatomegaly. PSMB8 (proteasome subu...

hrp0082p2-d2-583 | Sex Development (1) | ESPE2014

Novel Mutation in a Newborn with a Rare Cause of 46,XY Sex Reversal: 17β- Hydroxysteroid Dehydrogenase Type 3 Deficiency

Demir Korcan , Yildiz Melek , Elmas Ozlem Nalbantoglu , Korkmaz Huseyin Anil , Ozkan Behzat

Background: 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of 46,XY sex reversal due to a defect in conversion of androstenedione to testosterone. It is autosomal recessively inherited and caused by mutations in 17HSD3.Objective and hypotheses: To define clinical and laboratory characteristics of 17β-HSD3 deficiency during neonatal period.Method: An 8-day-old newborn with female externa...

hrp0084p1-12 | Bone | ESPE2015

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malign Infantile Osteopetrosis

Demir Korcan , Nalbantoglu Ozlem , Karaer Kadri , Korkmaz Huseyin Anil , Yildiz Melek , Tunc Selma , Ozkan Behzat

Aim: Osteopetrosis is caused by autosomal mutations occurring in nine genes (TNFRSF11A, TNFSF11, TCIRG1, CLCN7, OSTM1, SNX10, PLEKHM1, CA2, and LRP5). Detecting the aetiology and providing genetic counselling via individual mutation analysis of all these genes is expensive and time consuming. Whole exome sequencing is currently increasingly used given that the cost and the time needed are similar to that of single gene sequencing analysis. Here, two newborns,...