hrp0084p2-379 | Fat | ESPE2015

Clinical and Laboratory Differences between Metabolically Healthy and Unhealthy Obese Children

Elmaogullari Selin , Demirel Fatma , Hatipo Nihal

Background: Some obese children are metabolically healthy obese (MHO), while some are metabolically unhealthy obese (MUO) having dyslipidemia and/or insulin resistance which increase mortality and morbidity related to cardiovascular diseases during adulthood.Objective and hypotheses: This study is designed to assess factors affecting metabolic condition in obesity and compare clinical and laboratory findings between MHO and MUO children.<p class="abs...

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 &amp; 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...

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...

hrp0086p2-p157 | Bone &amp; Mineral Metabolism P2 | ESPE2016

A Case with Lethal Perinatal Hypophosphatasia

Ucakturk Seyit Ahmet , Demirel Fatma , Gonulal Deniz , Elmaogullari Selin , Yilmaz Aslihan , Unal Sevim

Background: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase. HPP is associated with significant morbidity and mortality in pediatric patients, with high rates as high as %100 in perinatal-onset HPP. Serum alkaline phosphatase (ALP) activity is markedly reduced, which leads to increased serum/urine phosphoethanolamine (PEA), pyridoxal-5’phosphate (PLP). Asfota...

hrp0082p2-d1-367 | Fat Metabolism &amp; Obesity | ESPE2014

Prevalence of Idiopathic Intracranial Hypertension and Related Factors in Obese Children and Adolescents

Tepe Derya , Demirel Fatma , Seker Esra Dag , Tayfun Meltem , Esen Ihsan , Kara Ozlem , Arhan Ebru Petek

Background: Idiopathic intracranial hypertension (IIH) is a disorder of elevated intracranial pressure without any evidence of intracranial pathology or underlying systemic disease. Obesity was reported as a significant cause of IIH in childhood especially in adolescents.Objective and hypotheses: IIH is a disorder of elevated intracranial pressure without any evidence of intracranial pathology or underlying systemic disease. Obesity was reported as a sig...