hrp0094p2-121 | Diabetes and insulin | ESPE2021

The effect of glycemic variability on DNA damage in pediatric patients with type 1 Diabetes Mellitus

Gokmen Gokhan , Altincik Ayca , Kılıc Erkek Ozgen , Tunc Ata Melek , Kılınc Toprak Emine , Kucukatay Vural , Ozhan Bayram ,

Increased glycemic variability is an important risk factor in terms of complications independent of HbA1c. The aim of this study was; to investigate the relationship between continuous glucose monitoring system (CGMS) indices and clinical data, to investigate DNA damage in patients with diabetes and to evaluate the effect of glycemic variability on DNA damage. Fifty patients with T1DM, aged under 18 years old, who were followed up at least one year in Pediatric Endocrinology D...

hrp0094p2-134 | Diabetes and insulin | ESPE2021

Does SARS-COV-2 outbreak increase diabetic ketoacidosis in new onset T1DM

Jalilova Arzu , Ata Gunay Demir Aysun , Işıklar Hafize , Atik Altınok Yasemin , Ozen Samim , Darcan Şukran , Gokşen Damla ,

Introduction: Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus (T1DM) and infection is the most common precipitating factor for DKA and is responsible for more than 50% of cases.Aim: We evaluated the frequency and severity of DKA in children with T1DM, before and during the coronavirus disease 2019 (COVID-19) outbreak, in order to identify its indirect effects on DKA incide...

hrp0094p2-141 | Diabetes and insulin | ESPE2021

Glycated Hemoglobin Variability and Microvascular Complications in Patients with Type 1 Diabetes Mellitus

Er Eren , Ata Aysun , Evin Ferda , Atik Altınok Yasemin , Demir Gunay , Ozen Samim , Darcan Şukran , Gokşen Damla ,

Introduction-Objective: Nephropathy, retinopathy, neuropathy are long-term microvascular complications of diabetes. Glycated hemoglobin (HbA1c), used as a glycemic control indicator, have proven to be indicative in the development of microvascular complications. In this study, the contribution of HbA1c variability to complication development was evaluated.Method: Twenty one cases with type 1 diabetes mellitus (T1DM) who ...

hrp0097p1-420 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Exploring Childhood Hypoparathyroidism: Stepwise Genetic Evaluation Approach

Gurpinar Tosun Busra , Alavanda Ceren , Kahveci Ahmet , Kurt İlknur , Kelestemur Elif , Yavas Abali Zehra , Helvacioglu Didem , Guran Tulay , Bereket Abdullah , Ata Pınar , Turan Serap

Background: Primary hypoparathyroidism (HP) is a rare disease characterized by hypocalcemia, hyperphosphatemia and low/inappropriately normal parathyroid hormone (PTH) levels. We aim to characterize the clinical findings and molecular aetiology of childhood HP in our cohort.Method: DiGeorge-VCFS FISH analysis was performed on all patients (n=28) as the initial step after the diagnosis. In whom, FISH analysis was...

hrp0097p1-455 | Fat, Metabolism and Obesity | ESPE2023

Non-Syndromic Monogenic Obesity and Psychiatric Disorders

Arslan Emrullah , Inan Kaleli Ipek , Ozalp Kızılay Deniz , Ata Aysun , Aykut Ayca , Jalilova Arzu , Goksen Damla , Ozbaran Burcu , Darcan Sukran

Introduction: Childhood obesity has been associated with many physical and mental health problems.A significant relationship has been reported between psychiatric disorders, especially attention deficit hyperactivity disorder(ADHD) in obese patients due to the melanocortin 4 receptor(MC4R) gene variant, and it has been claimed that these two conditions may share common molecular pathways. However, studies on this subject are quite insufficient.<p class="ab...

hrp0098rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

CYP24A1 MUTATIONS: CLINICAL AND LABORATORY FEATURES IN PATIENTS PRESENTING WITH HYPERCALCEMIA

Kurt Ilknur , Eltan Mehmet , Yavas Abalı Zehra , Alavanda Ceren , Demir Senol , Ata Pınar , Haliloglu Belma , Guran Tulay , Bereket Abdullah , Turan Serap

Background: The inactivating mutations of CYP24A1 (OMIM*126065) were first identified in idiopathic infantile hypercalcemia (IH) and named IH-type1 (IH1). However, biallelic mutations were later associated with hypercalcemia at various ages. In our study, we aimed to present the clinical and laboratory findings of our patients who presented with hypercalcemia and were found to have a mutation in CYP24A1.Methods and Resul...

hrp0092p1-175 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Rare Causes of Osteogenesis Imperfecta are Common in Consanguineous Pedigrees

Kaygusuz Sare Betul , Arman Ahmet , Abali Saygin , Ata Pinar , Kirkgoz Tarik , Eltan Mehmet , Abali Zehra Yavas , Helvacioglu Didem , Tosun Busra Gurpinar , Menevse Tuba Seven , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta (OI) is characterized by low bone mass and bone fragility mainly due to COL1A1/COL1A2 gene defects. However, >17 genes have been identified in the pathogenesis of OI. Here, we aim to characterize genotypic spectrum of our OI cohort.Methods: Forty-nine OI patients (28 males) from 38 different families (13 consanguineous/9 multiplex) were screened with the next-gene...

hrp0092p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A rare cause of hypophosphatemia: Raine Syndrome

Eltan Mehmet , Ata Pinar , Kirkgoz Tarik , Alavanda Ceren , Betul Kaygusuz Sare , Seven Menevse Tuba , Gurpinar Tosun Busra , Abali Zehra Yavas , Helvacioglu Didem , Guran Tulay , Elcioglu H.Nursel , Bereket Abdullah , Turan Serap

Background: Raine Syndrome (RS) is characterized by hypophosphatemia and typical facial dysmorphic features. Subperiostal thickening and diffuse generalized osteosclerosis are the most common radiological findings. Biallelic loss of function mutations in FAM20Cgene cause RS and by reduction of the transcription of DMP1 leads to FGF23-related hypophosphatemia. Here we present a new case with RS.Case: A 9-month-ol...

hrp0092p3-217 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Clinical and Molecular Spectrum of Patients with Disorders of Sex Development: A Single Center Experience

Özen Samim , Ata Aysun , Onay Hüseyin , Uzun Selin , Gökşen Damla , Özkinay Ferda , Burcu Özbaran Nazli , Ulman İbrahim , Darcan Şükran

Introduction: Disorders of sex development (DSD) constitute a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.Objective: To evaluate clinical and genetic features of childhood DSD cases.Materials and Methods: DSD patients followed up between the years of 1981-2018 were evaluated in t...

hrp0086p1-p737 | Pituitary and Neuroendocrinology P1 | ESPE2016

Screening of PROP-1, LHX2 and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland

Korkmaz Huseyin Anıl , Karaarslan Utku , Eraslan Cenk , Atila Dincer , Hazan Filiz , Barısık Vatan , Sevcan Ata Emine , Etlik Ozdal , Yıldız Melek , Ozkan Behzat

Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...