hrp0086p1-p198 | Diabetes P1 | ESPE2016

Neonatal Siabetes, Gallbladder Agenesis and Cholestatic Giant Cell Hepatitis: A Novel Homozygote Mutation in PDX-1 Gene

Ozturk Mehmet Adnan , Ozdemir Ahmet , Gul Ulku , Hatipoglu Nihal , Korkut Sabriye , Ceylan Mahir , Kurtoglu Selim

Background: It is known that PDX-1 gene mutation is related to neonatal diabetes, pancreas agenesis and intrauterine growth retardation. Here the aim was to present a novel defined mutation in PDX-1 gene in case born with IUGR, diagnosed with neonatal diabetes and in which exocrine pancreas deficiency and gallbladder agenesis were detected.Case presentation: Blood glucose was measured as 185 mg/dl in the first hour after birth and insulin infusion was gi...

hrp0086p2-p300 | Diabetes P2 | ESPE2016

Evaluation of the Epidemiological, Presenting and Follow-up Characteristics and their Impacts on the Glycemic Control in a Large Cohort of Pediatric Type 1 Diabetes Mellitus Patients from Southeastern Anatolian Region of Turkey

Ozbek Mehmet Nuri , Demirbilek Huseyin , Baysal Birsen , Baran Riza Taner , Haliloglu Belma , Ocal Murat

Background: Type 1 diabetes mellitus (T1DM) is one of the most common chronic disease in childhood. Evaluation of the factors that have impact on the glycemic control and developement of complications would help to develop preventive strategies for management of this group of patients.Objective and hypotheses: To evaluate epidemiological, presenting and follow up characteristics and their relationship with glycemic control in pediatric T1DM patients from...

hrp0086p2-p400 | Gonads & DSD P2 | ESPE2016

Novel CYP17A1 Mutation and CYP21 Mutations in Two Siblings

Işık Emregul , Keskin Mehmet , Yeşilyurt Ahmet

Background: 17 hydroxylase deficiency is a rare form of congenital adrenal hyperplasia resulting from loss-of-function mutations involving the CYP17 gene. It is characterized by decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors.Objective and hypotheses: We aimed to identify genetic cause of lack of puberty in a girl and the cause of ambiguous genitalia in her sibling. Fourteen-year-o...

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...

hrp0086p2-p709 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Neonatal Endocrinological Problems in Collodion Babies

Ozdemir Ahmet , Korkut Sabriye , Kurtoglu Selim , Hatipoglu Nihal , Gunes Tamer , Ozturk Mehmet Adnan

Background: Collodion babies (CBs) are an inherited group of diseases characterized clinically by diffuses severely dry and scaling skin. Patients are generally born prematurely and/or small for gestational age (SGA). Congenital hypothyroidism is seen together with various congenital anomalies, although the mechanism involved is still unclear.Objective and hypotheses: To identify endocrinological problems, and particularly those concerning growth, in 42 ...

hrp0086p2-p882 | Syndromes: Mechanisms and Management P2 | ESPE2016

Evaluation of Growth Pattern in Prader-Willi Syndrome

Gunes Sevinc Odabasi , Ergur Ayca Torel , Katircioglu Mehmet , Bulbul F. Selda

Background: The main reason of decrement of growth in children with Prader-Willi Syndrome (PWS) is dysfunction of hypothalamo-hypophseal axis (HHA) and a decrease in the capacity of secretion of growth hormone (GH). In fact, in some cases, GH levels are normal, so there may be other factors in the etiology.Objective and hypotheses: In this study, 19 months old PWS case with growth failure is represented.Method: 13 months old male p...

hrp0082p2-d1-448 | Growth | ESPE2014

Isolated GH Deficiency (IGHD) may be due to Several Different Causes: mutations in the GHRH Receptor Gene Are a Relatively Rare Cause of IGHD

Demirbilek Huseyin , Tahir Sophia , Baran Riza Taner , Sherif Maha , Ozbek Mehmet Nuri , Hussain Khalid

Background: Isolated GH deficiency (IGHD) may be due to several different causes. Mutations in the GHRH receptor (GHRHR) gene are a relatively rare cause of IGHD.Objective and hypotheses: To understand the molecular cause of severe short stature in a large highly consanguineous family with IGHD.Method: Affected patients were evaluated for GH secretion and other anterior pituitary function. Anterior pituitary size was measu...

hrp0082p3-d1-704 | Diabetes | ESPE2014

A Case with Neonatal Diabetes and Congenital Hypothyroidism due to Glis3 Gene Deletion

Tolga Ozgen Ilker , Kucukkoc Mehmet , Houghton Jayne , Gokce Selim , Cesur Yasar

Background: Neonatal diabetes is a rare disease having usually a genetic origin. Defects in KCNJ11, ABCC8, INS, GCK, and PDX1 genes are more frequent and may lead non-transient, non-syndromic neonatal diabetes, whereas defects in PTF1A, FOXP3, EIF2AK3, GLIS3, RFX6, and NEUROD1 genes are very rare and may lead neonatal diabetes as a part of a syndrome.Objective and hypotheses: We present a patient with GLIS3 ge...

hrp0082p3-d3-750 | Diabetes (4) | ESPE2014

A Case of Type 1 Diabetes Associated with Cerebellar Ataxia: Stiff-Person Syndrome

Kurtoglu Selim , Okdemir Deniz , Hatipoglu Nihal , Akin Leyla , Gul Ulku , Canpolat Mehmet , Kendirci Mustafa

Background: Stiff-person syndrome (SPS) is a rare disorder which is characterized by muscle rigidity, spasm and cerebellar abnormalities. The etiology is not clarified yet. 80% of cases are caused by an autoantibody against GAD that inhibits synthesis of GABA. Other autoimmune diseases such as type 1 diabetes mellitus and thyroiditis are often associated.Aim: To underline the importance of considering SPS in differential diagnosis of patients with type 1...

hrp0084p2-220 | Bone | ESPE2015

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D Dependent Rickets Type I

Tahir Sophia , Demirbilek Huseyin , Ozbek Mehmet Nuri , Baran Riza Taner , Tanriverdi Sibel , Hussain Khalid

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...