hrp0095p1-553 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Evaluation of the Frequency of Multiple Hormone Deficiency and Long-Term Data in Patients with Craniopharyngioma

Gul Balki Hanife , Evin Ferda , Eraslan Cenk , Barutcuoglu Burcu , Bolat Elif , Ozen Samim , Goksen Damla , Darcan Sukran

Introduction: Craniopharyngiomas can lead to pituitary insufficiency and long-term endocrine complications due to the location, invasive character and risk of recurrence, besides they known as histologically benign.Aim: In this study, we aimed to evaluate the demographic, clinical features, endocrinological problems and follow-up findings in patient with craniopharyngioma in childhood.Metho...

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...

hrp0095p1-419 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Early-Stage Radiological Markers of Endothelial Dysfunction and Cardiovascular Findings in Patients with Osteogenesis Imperfecta and Their Genotype-Phenotype Correlations: A Case-Control Study

Evin Ferda , Aydin Derya , ÖZen Samim , Darcan Şükran , Onay Hüseyin , Gökşen Damla , Levent Ertürk

Introduction: Osteogenesis imperfecta (OI) is a disease related to collagen synthesis or fuctions. Collagen is found in many areas of the cardiovascular system. Endotelial dysfunction can be detected at an early stage before the symptoms become evident by non-invasive radiologic methods such as flow-mediated dilatation (FMD), carotid intima-media thickness (CIMT), and ventricular functions measurements, which may serve as indicators of endothelial dysfunction....

hrp0095p1-571 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Detection of Copy Number Variations by Microarray in Disorders of Sex Development of Unexplained Molecular Etiology and Association with Clinical Findings

Çağlar Karataş Murat , Evin Ferda , Atik Tahir , Ata Aysun , Er Eren , Gökşen Damla , Darcan Şükran , Özen Samim

Introduction: Microarray (SNP array) method offers a powerful full genome scanning opportunity in the diagnosis of disorders of sex development (DSD).Aim and Method: We aimed to determine the copy number variations (CNVs) by using the microarray method to elucidate the molecular etiology in DSD patients. The variants found were scored according to the American College of Medical Genetics and Genomics criteria.<p clas...

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...

hrp0092rfc6.4 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Targeted Molecular Genetic Diagnosis by Next Generation Sequence Analysis Method and Investigation of Responsible Candidate Genes in Patients with Osteogenesis Imperfecta

Özen Samim , Gökşen Damla , Işik Esra , Gürkan Ferda Evin , Onay Hüseyin , Akgün Bilçag , Ata Aysun , Atik Tahir , Özkinay Ferda , Darcan Şükran , Çogulu Özgür

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...