hrp0089p3-p094 | Diabetes & Insulin P3 | ESPE2018

Our Clinical Experiences in Type 2 Diabetes

Direk Gul , Uzan Tatlı Zeynep , Nur Hepokur Merve , Gul Şiraz Ulku , Akın Leyla , Hatipoğlu Nihal , Kendirci Mustafa , Kurtoğlu Selim

Background: Type 2 diabetes is a heterogeneous disorder characterized by the defective of insulin, which can not progressively compensate for insulin resistance, due to the influence of environmental factors on the basis of genetic susceptibility. Hyperglycemia, which starts with insulin resistance, is thought to show toxic effects (glucotoxicity) on β cells and ultimately impairs beta cell function., Although many factors play a role in etiology, obesity is the most comm...

hrp0089p3-p247 | Growth & Syndromes P3 | ESPE2018

A Rare Chromosomal Disorder, Trisomy 4p

Hepokur Merve Nur , Tatlı Zeynep Uzan , Direk Gul , Akın Leyla , Hatipoğlu Nihal , Kendirci Mustafa , Kurtoğlu Selim

Background: 4p duplication syndrome is a very rare chromosomal disorder. In the literature; dysmorphic facial features, learning disability, speech retardation, overgrowth, musculoskeletal abnormalities, attention deficit hyperactivity disorder and autism syndrome have been reported to be associated with 4p16.3 duplication. Here we present a patient who admitted to our clinic with complaints of growth in hands and feet along with delayed speech and mental retardation. The gene...

hrp0089p3-p297 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Is Prematüre Adrenarch Associated with Precocıous Puberty via Kisspeptin?

Albayrak Aysun , Direk Gul , Uzan Tatlı Zeynep , Nur Hepokur Merve , Akın Leyla , Hatipoğlu Nihal , Kendirci Mustafa , Kurtoğlu Selim

Aim: Premature pubarche is defined as the start of axillary and pubic hair before age 9 in boys and 8 in girls. 10 times more common in girls than boys. Central precocious puberty is a condition due to early activation of hypothalamic-pituitary- gonadal axis associated with breast development before age 8 in girls and testicular volume growth before age 9 in boys. Despite this axle is not known exactly which hormones are respnsible for the activation, the role of kisspeptin&#1...

hrp0086rfc9.5 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Non-Mody Monogenic Diabetes: A Very Heterogenous and Problematic Group of Diabetes

Siklar Zeynep , De Franco Elisa , FlanagaN Sarah , Ellard Sian , Ceylaner Serdar , Boztug Kaan , Dogu Figen , Ikinciogullari Aydan , Kuloglu Zarife , Kansu Aydan , Berberoglu Merih

Background: Monogenic diabetes represents a group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes according to age of onset, with neonatal DM (<6 months of age) and maturity onset diabetes of young (MODY) (>6 months and <25 years of age); not every case can be classified into those groups.Objective and hypot...

hrp0086p1-p109 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

Abali Saygin , Arman Ahmet , Atay Zeynep , Bas Serpil , Cam Sevda , Gormez Zeliha , Demirci Huseyin , Alanay Yasemin , Akarsu Nurten , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta type XVII (OI17) (MIM#182120) have been described recently due to mutation in secreted protein, acidic, cysteine-rich (SPARC) gene located on 5q33.1.Objective and hypotheses: Here we report a novel mutation in SPARC causing OI17.Case: Two siblings presented to our clinic at the age of 10.3 and 0.5 years old. Parents were consanguineous. The older one was born with birth weight &...

hrp0086p1-p131 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes

Abali Saygin , Arman Ahmet , Atay Zeynep , Bereket Abdullah , Bas Serpil , Haliloglu Belma , Guran Tulay , Gormez Zeliha , Demirci Huseyin , Akarsu Nurten , Turan Serap

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of brittle bone disease mostly caused by quantative or qualitative defects in type I collagen. In most populations, more than 90% of the patients with OI have dominant mutations in COL1A1 or COL1A2 genes (AD-OI). Less than 10% of the cases have recessive inheritance (AR-OI). Currently 12 genes have been identified as a cause of AR-OI.Objective and hypotheses: We assumed h...

hrp0086p1-p813 | Syndromes: Mechanisms and Management P1 | ESPE2016

Reconsideration of Mid-Parental Height Calculation

Bereket Abdullah , Bugur Ibrahin Sinan , Guran Tulay , Atay Zeynep , Ekberzade Azad , Gurbanov Ziya , Oge Ece , Tas Cektar Seyid Riza , Turan Serap , Furman Andrzej

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...

hrp0086p1-p826 | Syndromes: Mechanisms and Management P1 | ESPE2016

Etiologic Distribution and Characteristics of Patients with Short Stature in a Pediatric Endocrinology Clinic

Ozcan Sibel , Abali Saygin , Atay Zeynep , Haliloglu Belma , Bas Serpil , Ozturk Gamze , Cam Sevda , Akcay Teoman , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiologic...

hrp0084p2-206 | Bone | ESPE2015

Hereditary Vitamin D-Resistant Rickets: Report of Four Cases with Successful Use of Intermittent Intravenous Calcium Via Peripheral Route

Abali Saygin , Tamura Mayuko , Atay Zeynep , Isguven Pinar , Guran Tulay , Haliloglu Belma , Bas Serpil , Isojima Tsuyoshi , Turan Serap , Kitanaka Sachiko , Bereket Abdullah

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...

hrp0097p1-595 | Thyroid | ESPE2023

A Case report of papillary thyroid carcinoma diagnosed at an early age

Aydın Behram Bilge , Donbaloğlu Zeynep , Barsal Çetiner Ebru , Singin Berna , Karagüzel Güngör , Ünver Tuhan Hale , Parlak Mesut

Introduct&idot;on: Thyroid cancers are rare malignancies in childhood and their incidence is between 1.5-3% among all childhood cancers. Papillary thyroid cancer (PTC) constitutes more than 90% of childhood thyroid cancers. Risk factors for thyroid cancer include; There are iodine deficiency, radiation exposure, radiotherapy to the head and neck region, and genetic predisposition. We will present an 8-year-old case who presented with a complaint of neck swelli...