hrp0089p2-p335 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

The Effect of Polychlorinobiphenyls on Premature Puberty in Girls

Guven Raziye Burcu , Ozen Samim , Gokşen Damla , Korkmaz Ozlem , Darcan Şukran

Introduction: Studies show that onset of puberty in girls is occurring at increasingly younger ages. Environmental endocrine disruptors are implicated in the etiology of early puberty. Polychlorobiphenyls (PCBs) are one of the endocrine disruptor with proven estrogenic effects.Aim: To investigate the effect of PCBs on premature puberty in girls.Materials-Methods: The study group was selected from girls aged 2–8 years with a di...

hrp0084p2-372 | Fat | ESPE2015

The Effect of ABCA1 Gene C69T Single Nucleotide Polymorphism on Dyslipidemia and Insulin Resistance in Obese Children

Ozgen Ilker Tolga , Erenberk Ufuk , Gok Ozlem , Kilic Ulkan , Bayraktar-Tanyeri Bilge , Torun Emel , Aksu Mehmet Sirin , Cesur Yasar

Background: ATP-binding cassette transporter A1 (ABCA1) mediates the transport of cholesterol and phospholipids from cells to lipid-poor apolipoproteins. It has been demonstrated that the ABCA1 gene C69T single nucleotide polymorphism (SNP; TT genotype) is associated with lower HDL cholesterol and higher triglycerides (TG) levels. The relation of this polymorphism with type 2 diabetes mellitus has also been shown.Objective and hypotheses: As dys...

hrp0094p1-67 | Diabetes B | ESPE2021

The Molecular Genetic Etiology by Whole Exome Sequence Analysis in Cases With Familial Type 1 Diabetes Mellitus without HLA Haplotype Predisposition or Incomplete Predisposition

Cem Yılmaz ğur , Evin Ferda , Onay Huseyin , Ozen Samim , Darcan Şukran , Gokşen Damla ,

Introduction: Family history is observed in approximately 10% of the cases with type 1 diabetes mellitus (T1DM). The most important gene that determines susceptibility is the human leukocyte antigen complex (HLA) on chromosome 6. In HLA genes; specific combinations of alleles at DR3, DR4, DRB1, DQA1 and DQB1 locus either predispose or protective for T1DM. In this study, we aimed to investigate the molecular genetic etiology by whole exome sequence (WES) analys...

hrp0094p2-374 | Pituitary, neuroendocrinology and puberty | ESPE2021

Crooke Cell Adenoma as a Rare Cause of Recurrent Cushing Disease: A Challenge in Treatment and Follow-up

Jalilova Arzu , Ozen Samim , Callı Cem , Ozgiray Erkin , Ertan Yeşim , Gokşen Damla , Darcan Şukran ,

Introduction: Crooke’s cell adenoma (CCA) is an aggressive subtype of corticotroph adenoma, it is usually large, frequently invades surrounding tissues, and is resistant to both surgery and radiotherapy.Case Report: A 13-year-old girl, admitted with weight gain for more than 3 months. Her height was 147.5 cm (-1.5 SDS), weight 58.5 kg (1.1 SDS), BMI 26.89 kg/m2 (2 SDS) and blood pressure was 100/78mmHg. Her i physical exa...

hrp0089p2-p130 | Fat, Metabolism and Obesity P2 | ESPE2018

A Rare Case of Diabetes Mellitus in an Adolescent: Partial Lipodystrophy

Ozen Samim , Ata Aysun , Gokşen Damla , Akıncı Barış , Tuncer Canan Altay , Darcan Şukran

Introduction: Lipodystrophies are heterogeneous group of disorders; characterized by congenital or acquired loss of fat tissue. These disorders can causes severe metabolic complications during childhood. Case: 10.5 years old girl admitted to our clinic due to pigmented lesions on her body. She was investigated due to sclerotic lesions on her legs when she was 8 years old and was diagnosed as scleroderma and methotrexate was initiated. On physical examination weight was 47 kg (...

hrp0094fc5.6 | Sex Development and Gender Incongruence | ESPE2021

Investigation of The Molecular Genetic Causes Of Non-Syndromic Premature Ovarian Failure By Next Generation Sequence Analysis

Er Eren , Aşıkovalı Semih , Ozışık Hatice , Gokşen Damla , Onay Huseyin , Saygılı Fusun , Darcan Şukran , Ozen Samim ,

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...

hrp0094p1-109 | Adrenal B | ESPE2021

Plasma steroid panel with liquid chromotography-mass spectrometry (LC/MS-MS) method: utilization in differential diagnosis of hyperandrogenism

Ucar Mert , Ata Aysun , Barutcuoğlu Burcu , Ak Guneş , Habif Sara , Parıldar Zuhal , Gokşen Damla , Darcan Şukran , Ege Samim Ozen ,

Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adr...

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 ...

hrp0094fc4.5 | Diabetes | ESPE2021

Molecular Genetic Diagnosis and Research of Candidate Genes by Targeted Next Generation Sequence Analysis and Whole Exome Sequencing Method in Monogenic Diabetes: MODY-TURK Project

Gokşen Damla , Evin Ferda , Işık Esra , Ozen Samim , Atik Tahir , Ozkınay Ferda , Akcan Neşe , Ozkan Behzat , Buyukinan Muammer , Ozbek Mehmet Nuri , Darcan Şukran , Onay Huseyin ,

Introduction: MODY; is a rare type of diabetes that occurs clinically and genetically due to a single heterogeneous gene defect. To date, 14 different genes have been identified. In order to develop a holistic genetic diagnosis approach to monogenic DM, it is aimed to investigate molecular genetic diagnosis and responsible candidate genes with targeted new generation sequence analysis and whole exome sequencing (WES) method.Metho...