hrp0086p2-p976 | Thyroid P2 | ESPE2016

Severe Hyponatremia and Repeated Intestinal Resections for Intestinal Dysmotility Mimicking Congenital Aganglionic Megacolon due to Delay in the Diagnosis of Congenital Hypothyroidism

Buyukyilmaz Gonul , Baltu Demet , Soyer Tutku , Tanyildiz Murat , Demirbilek Huseyin

Background: Congenital hypothyroidism (CH), the most common preventable cause of mental retardation in children, may presents with non-specific signs and symptoms. Beside, majority of the infants can be asymptomatic. Underestimation and/or misdiagnosis may cause delay in diagnosis and results in severe complications.Case report: A 5 months-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenita...

hrp0082p2-d3-475 | Hypoglycaemia | ESPE2014

Long-Term Follow Up of Children with Congenital Hyperinsulinism on Octreotide Therapy

Demirbilek Huseyin , Shah Pratik , Arya Ved Bhushan , Hussain Khalid

Background: Octreotide, a long-acting somatostatin analogue, is commonly used in diazoxide unresponsive congenital hyperinsulinism (CHI) patients as a second line medication. However, there are no large studies evaluating long-term follow-up CHI patients on octreotide therapy.Objective and hypotheses: To evaluate the dose range, side effects and long-term follow-up in CHI patients on daily octreotide injections.Method: Twenty-eight...

hrp0089p3-p237 | Growth & Syndromes P3 | ESPE2018

Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

Yaman Betul , Celegen Kubra , Korkmaz Emine , Lafci Naz Guleray , Balik Zeynep , Demirbilek Huseyin , Duzova Ali

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

hrp0086p2-p172 | Bone & Mineral Metabolism P2 | ESPE2016

Potential Role of Vitamin D in Pathogenesis of Acute Rheumatic Fever

Hanedan Onan Sertac , Demirbilek Huseyin , Aldudak Bedri , Bilici Meki , Demir Fikri , Muhtar Yilmazer Murat

Background: Acute rheumatic fever (ARF) is a non-suppurative complication of Group A beta-hemolytic streptococcus pharyngitis. The underlying mechanisms have not been fully elucidated. A series of autoimmune processes are thought to be involved in pathogenesis. Low vitamin D levels have been reported in various autoimmune diseases.Objective and hypotheses: The aim of the present study is to evaluate the association of vitamin D levels and its impact on t...

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-p764 | Pituitary and Neuroendocrinology P2 | ESPE2016

Kallmann Syndrome Due to a Homozygous Missense c.217C>T (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene

Ozturk Mehmet Nuri , Demirbilek Huseyin , Kotan Leman Damla , Baysal Birsen , Ocal Murat , Topaloglu Ali Kemal

Background: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

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...

hrp0082p2-d3-474 | Hypoglycaemia | ESPE2014

Plasma Glucagon and Somatostatin Levels in Children with Congenital Hyperinsulinism During Hypoglycaemia

Shah Pratik , Mamikunian Gregg , Gilbert Clare , Morgan Kate , Hinchey Louise , Arya Ved , Demirbilek Huseyin , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children, due to dysregulated insulin secretion from pancreatic β-cells. Glucagon, secreted from the pancreatic α-cells, is critical for blood glucose homeostasis. Somatostatin is secreted by Δ-cells of the islets and by extraislet neuroendocrine cells. Exogenous somatostatin potently inhibits insulin and glucagon release from pancreatic islets. Under normal physiological conditions, low...

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...

hrp0084p2-403 | GH & IGF | ESPE2015

Homozygous Carriers of a Novel IGFALS Mutation are 1.5 SD Shorter than Heterozygous Relatives and Tend to have Lower Bone Mineral Density

Isik Emregul , van Doorn Jaap , Demirbilek Huseyin , Losekoot Monique , Wit Jan-Maarten

Background: There are limited data on differences in height, bone mineral density (BMD) and pubertal delay between homozygous and heterozygous carriers of IGFALS defects.Objective and hypotheses: To describe clinical and laboratory features and BMD of homozygous and heterozygous carriers of a novel IGFALS mutation in a large Kurdish family.Method: Index cases were two first degree cousins presenting with short stature, low IGF1, ve...