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...

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...

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-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...

hrp0082p3-d3-804 | Gonads and Gynaecology | ESPE2014

Complete Blood Count Parameters in Girls with Polycystic Ovary Syndrome

Ucakturk Ahmet , Demirel Fatma , Tayfun Meltem , Tepe Derya , Elmaogullari Selin , Kara Ozlem

Background: Polycystic ovary syndrome (PCOS) is characterized by ovulatory dysfunction and excess androgen secretion. Androgens may affect bone marrow cells via androgen receptor which expressed in the bone marrow. Also it is known that especially testosterone increases hemoglobin and hematocrit concentrations.Objective and hypotheses: Our aim in this study is to describe the relation between hyperandrogenism and complete blood count (CBC) parameters in ...

hrp0084p3-707 | Diabetes | ESPE2015

A Novel Genetic Mutation in a Turkish Family with GCK-MODY

Ucakturk S Ahmet , Gunindi Figen , Demirel Fatma , Elmaogullari Selin , Mengen Eda , Yuksel Bilgin

Background: Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene. It mostly presents with mild fasting hyperglycaemia. MODY2 accounts for 2%–5% of all diabetes cases. It is treated with diet only, and complications are extremely rare. We presented here a family with MODY2 caused by a novel heterozygous p.E51*(c.151.G>T) mutation of the GCK gene.<p ...

hrp0092p1-255 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Effects of 5-Hydroxymethylfurfural on Pubertal Development of Wistar Rats

Elmaogullari Selin , Kadan Elcin , Anadol Elvan , Gokceoglu Ayris , Cetinkaya Semra , Yarim Gul Fatma , Ucakturk Seyit Ahmet , Aycan Zehra

Introduction: 5-Hydroxymethylfurfural (HMF) is formed when sugars like glucose and fructose are heated in the presence of amino acids. HMF is naturally present in many foods and we are exposed to HMF in daily life. There are conflicting data on potential genotoxic, mutagenic, carcinogenic, DNA-damaging, organotoxic and enzyme inhibitory effects of HMF and its metabolites. We aimed to investigate toxic effects of HMF on reproductive system in peripubertal rats....

hrp0086p1-p915 | Thyroid P1 | ESPE2016

Macro TSH- a Rare Cause of High Levels of TSH

Elmaogullari Selin , Yilmaz Aslihan Arasli , Ucakturk Seyit Ahmet , Tayfun Meltem , Gurbuz Fatih , Ucar Fatma , Bulut Erdem , Hattori Naoki , Demirel Fatma

Background: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...