hrp0082p3-d1-707 | Diabetes | ESPE2014

The Lung Endothelin System: a Potent Therapeutic Target with Bosentan for the Amelioration of Lung Alterations in a Rat Model of Diabetes Mellitus

Cayir Atilla , Halici Zekai , Akpinar Erol , Bayraktutan Zafer , Kara Mustafa

Background: Endothelial dysfunction underlies lung and other organ complications developing in associated with diabetes. Endothelial dysfunction leads to an increase in cytokine levels and oxidative stress. Studies have shown that the endothelin plays significant roles in the development of diabetic complications.Objective and hypotheses: The aim of this study is to show the effect of a new mechanism on endothelin receptors in the physiopathology of diab...

hrp0082p3-d2-996 | Thyroid (1) | ESPE2014

Report of a Hurthle Cell Neoplasm in a Boy

Orbak Zerrin , Cayir Atilla , Doneray Hakan , Oral Akgun , Gursan Nesrin

Background: Thyroid nodules are rare in children compared to adults. Although most thyroid nodules are benign, the risk of malignancy is greater in pediatric patients.Case: We described a 10-year-old boy who presented with a right sided thyroid nodule that was 12×8 mm. He had not cervical lymphadenopathy. His fine needle aspiration biopsy cytology was benign. It was subsequently diagnosed as a Hurthle cell adenoma after thyroidectomy. In histopathol...

hrp0095p1-79 | Fat, Metabolism and Obesity | ESPE2022

Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C>T p.Arg57* mutation in CEP19 gene

Cayir Atilla , Turkyilmaz Ayberk , Rabenstein Hannah , Guven Fadime , Sumeyra Karagoz Yuksel , Wabitsch Martin , Demirbilek Huseyin

Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...

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...

hrp0084p3-1084 | Perinatal | ESPE2015

Plasma Kisspeptin Levels of Infants Breast Growth in Neonatal Period

Kaya Avni , Orbak Zerrin , Polat Harun , Cayir Atilla , Erdil Abdullah , Doneray Hakan

Background: The studies investigating kisspeptin levels in the neonatal period is very limited.Objective and hypotheses: This study was intended to investigate plasma kisspeptin hormone levels in newborns with or without breast growth.Method: This prospective study was performed to determine plasma hormone levels of kisspeptin in patients admitted to the Erzurum Ataturk University Faculty of Medicine Research and Educational Hospit...

hrp0092p1-71 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Clinical, Biochemical and Echocardiographic Evaluation of Patients with Congenital Rickets Due to Maternal Vitamin D Deficiency

Cayir Atilla , Akyigit Ali , Gullu Ufuk Utku , Kahveci Hasan , Yildiz Duran , Kurnaz Erdal , Vuralli Dogus , Kaya Abdulkadir , Demirbilek Huseyin

Objective: Vitamin deficient (VDD) rickets can manifest with skeletal (hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase and defective bone mineralization) and extra-skeletal findings. There are certain number of case reports and limited number of small scale studies reporting dilated cardiomyopathy due to VDD rickets.The aim of the present study is to evaluate the clinical, biochemical and echocardiographic features of...

hrp0089p2-p106 | Diabetes & Insulin P2 | ESPE2018

Congenital Hyperinsulinism: Clinical and Molecular Characteristics – Fluorine-18-L-Dihydroxyphenylalanine Positron Emission Tomography (F-DOPA PET) Scan Results – Treatment Responses and Short Term Outcomes of 5 Patients

Turan Hande , Dagdeviren Cakir Aydilek , Cayir Atilla , De Franco Elisa , Ellard Sian , Sonmezoglu Kerim , Ercan Oya , Olcay Evliyaoglu Saadet

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...

hrp0089p2-p200 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Systemic Pseudohypoaldosteronism Type 1 Due to 3 Novel Mutations in SCNN1A and SCNN1B Genes; Report of 3 Cases

Cayir Atilla , Demirelli Yasar , Yildiz Duran , Kahveci Hasan , Yarali Oguzhan , Karaoglan Dogus Vuralli , Kurnaz Erdal , Demirbilek Huseyin

Objective: The systemic form pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized with defective sodium transport in many organ systems including kidney, lungs, colon, sweat glands and salivary glands. Homozygous or compound heterozygous loss-of-function mutations in the genes encoding amiloride sensitive epithelial sodium channel (ENaC) account for genetic causes of systemic PHA1.Case 1: Male patient presented with vomi...

hrp0082p2-d1-324 | Diabetes | ESPE2014

Two Novel Homozygous Mutations in WFS1 Gene in Two Turkish Families with Mild Phenotypic Expression of Wolfram Syndrome

Sherif Maha , Demirbilek Huseyin , Cayir Atilla , Ozbek Mehmet Nuri , Baran Riza Taner , Cebeci Ayse Nurcan , Tahir Sophia , Rahman Sofia , Dattani Mehul , Hussain Khalid

Background: Wolfram syndrome (WS or DIDMOAD) is a rare (prevalence of 1/770,000) autosomal recessive multi-systemic neurodegenerative disease, characterized by non-autoimmune diabetes mellitus (DM) and optic atrophy. Additional features include diabetes insipidus (DI), sensorineural deafness, urinary tract abnormalities, ataxia, psychiatric illness, and other endocrine disturbances leading to death in mid-adulthood. This syndrome is caused by recessive mutations in the wolfram...

hrp0092p1-207 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Clinical characteristics and long term follow up of 17 patients with permanent neonatal diabetes due to PTF1A distal enhancer mutations

Demirbilek Huseyin , Cayir Atilla , DeFranco Elisa , Kor Yilmaz , Yildiz Melek , Yildirim Ruken , Baran Riza Taner , Demiral Meliha , Haliloglu Belma , Flanagan Sarah E , Ellard Sian , Hussain Khalid , Ozbek Mehmet Nuri

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...