hrp0086p2-p272 | Diabetes P2 | ESPE2016

A Case Report of Wolfram Syndrome due to a Novel Homozygous Mutation in WFS1 Gene

Tayfun Meltem , Arasli Aslihan , Elmaogullari Selin , Ucakturk Ahmet , Demirel Fatma

Introduction: Wolfram Syndrome (WFS: OMIM 222300), also known as DIDMOAD (diabetes mellitus, optic atrophy and deafness) is an autosomal recessive, progressive, neurologic, and endocrinologic, degenerative disorder caused by mutation in the WFS1 Gene. This report presents a case with a new defined mutation in WFS.Case presentation: Fourteen-year-old male patient was diagnosed with non-autoimmune type I diabetes at the age of 5 and insulin treatment was a...

hrp0086p2-p329 | Diabetes P2 | ESPE2016

The Prevalence of Dyslipidemia and Associated Factors in Children and Adolescent with Type I Diabetes

Bulut Tuba , Demirel Fatma , Metin Ayşe

Background: Dyslipidemia increases the frequency and severity of micro- and macro-vascular complications of type 1 diabetes.Objective and hypotheses: The present study aims to determine the prevalence of dyslipidemia and its association with clinical and laboratory findings in diabetic children and adolescents.Methods: The study included 202 children and adolescents with type 1 diabetes. Demographic data and laboratory findings wer...

hrp0086p1-p624 | Growth P1 | ESPE2016

A Novel GH1 Mutation in a Family with Autosomal-Dominant Type II Isolated Growth Hormone Deficiency

Gurbuz Fatih , Elmaogullari Selin , Arasli Aslihan , Demirel Fatma

Background: The familial type of isolated growth hormone deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type IA and IB, the autosomal-dominant type II, and X-linked recessive type III. Phenotype-genotype correlations are notoriously difficult to be established. Herein, we described the patient who has autosomal-dominant type II IGHD due to a novel GH1 mutation.Objec...

hrp0082p3-d2-776 | Fat Metabolism & Obesity (1) | ESPE2014

Prevalence of Dyslipidemia and Associated Factors Among Obese Turkish Children

Elmaogullari Selin , Tepe Derya , Ucakturk Ahmet , Demirel Fatma

Background: Obesity prevalence among children increased worldwide in last three decades. Childhood onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of cardiovascular diseases.Objective and hypotheses: This study is designed to evaluate the prevalence and related factors of dyslipidemia among obese children and adolescent.<p c...

hrp0082p3-d1-936 | Puberty and Neuroendocrinology | ESPE2014

Association of Van Wyk Grumbach and Debre Semelaigne Syndromes in Two Cases with Severe Hypothroidism

Demirel Fatma , Oden Alkim , Tayfun Meltem , Ucakturk Ahmet , Gungor Ali

Background: Van Wyk Grumbach (VWG) and Kocher Debre Semelaigne (KDS) syndromes are rare syndromes with clinical manifestation of hypothyroidism associated with precious pseudo puberty and myopathic pseudomuscular hypertrophy. We present two cases that have the characteristic of both VWGS and KDSS syndromes developed in association with a long-term untreated hypothyroidism.Case 1: Seventeen years old girl was referred to our hospital due to menstrual irre...

hrp0084p2-567 | Thyroid | ESPE2015

Case Report: Resistance of Thyroid Hormone due to a Novel Thyroid Hormone Receptor β-Gene Mutation

Tayfun Meltem , Elmaogullari Selin , Yesilyurt Ahmet , Demirel Fatma

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

hrp0082p2-d3-613 | Turner Syndrome | ESPE2014

Nationwide Study of Turner Syndrome During Childhood in Turkey: Evaluation of Associated Problems

Yesilkaya Ediz , Darendeliler Feyza , Bereket Abdullah , Bas Firdevs , Poyrazoglu Sukran , Aydin Banu Kucukemre , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Sari Erkan , Adal Erdal , Akinci Aysehan , Atabek Mehmet Emre , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Cinaz Peyami , Pediatric Endocrinology Turner Study Group

Background: Turner syndrome is one of the most common chromosomal disorders and is seen in 1:2500 female live births. The disease manifests with various clinical features and can be classified according to karyotype as monosomy, mosaicism, numeric, and structural abnormalities.Objective and hypotheses: Patients with Turner syndrome have complicated with various manifestations congenital or acquired. In this study we aimed to emphasise the importance of a...

hrp0084p3-1243 | Turner | ESPE2015

Anthropometric Findings from Birth to Adulthood in Turkish Girls with Turner Syndrome and Association with Karyotpye Distribution

Sari Erkan , Bereket Abdullah , Yesilkaya Ediz , Bas Firdevs , Bundak Ruveyde , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Orbak Zerrin , Ercan Oya , Study Group Turner Syndrome

Background: Turner syndrome (TS) can manifest with various clinical features depending on the karyotype and the genetic background of affected subjects.Objective and hypotheses: The aim of this study was to evaluate growth parameters from birth to adulthood in girls with TS in a cross-sectional study.Method: A total of 842 patients, with an age of diagnosis ranging from birth to 18 years followed-up between 1984 and 2014, from 35 d...

hrp0086p2-p314 | Diabetes P2 | ESPE2016

Vitamin D Levels and Relations with Clinical and Laboratory Findings in Children with Newly Diagnosed Type 1 Diabetes

Karaguzel Gulay , Colkusu Mustafa , Bulut Ebru , Turan Ozge , Demirci Irem

Background: Vitamin D deficiency (VDD) is common in the general pediatric population of the world. Some studies reported that low vitamin D levels with an increased risk of diabetes.Objective and hypotheses: VDD can be more common in children with type 1A diabetes (DM1A) than those with type 1B diabetes (DM1B). To evaluate 25OHD levels in children with newly diagnosed DM1A and DM1B patients and investigate any relation with clinical and laboratory data a...

hrp0086p2-p60 | Adrenal P2 | ESPE2016

A Case of Cushing’s Syndrome Due to Adrenocortical Adenoma with Pubarche and Obesity

Gurbuz Fatih , Cayir Atilla , Karakus Esra , Demir Rabia , Demirel Fatma , Senel Emrah

Background: Adrenocortical tumors in childhood represent very rare about 0.2% of all pediatric malignancies. Cushing’s syndrome (CS) is characterized by clinical features caused by autonomous excessive glucocorticoid production from adrenal cortex. In ACTH-independent CS, the most common cause is unilateral cortisol-producing adrenocortical adenoma.Objective and hypotheses: Fifteen months old girl was admitted with gradually gain weight, pubarche, a...