hrp0086p2-p525 | Fat Metabolism and Obesity P2 | ESPE2016

Prevalence of Melanocortin 4 Receptor Mutations in Turkish Obese Children

Aykut Ayca , Ozen Samim , Goksen Damla , Onay Huseyin , Atik Tahir , Darcan Şukran , Ozkinay Ferda

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight which has intensively been analyzed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.Objective and hypotheses: To identify MC4R mutations prevelance in Turkish obese children and adolescents.Method: Ninenty three pediatric and adolescent patients ...

hrp0082p3-d3-867 | Growth (4) | ESPE2014

The Effect of GH and Pubertal Induction Therapy in Turner Syndrome

Darcan Sukran , Ozen Samim , Koprulu Ozge , Atik Tahir , Ozkinay Ferda , Goksen Damla

Background: The most prominent clinical feature in patients with Turner syndrome (TS) is short stature.Objective and hypotheses: To assess the effect of GH and pubertal induction therapy on height gain in patients with TS.Method: 58 TS patients with a mean age of 18.9±7.2 years were documented retrospectively. Clinical findings, karyotype, impact of baseline age, dosage, baseline bone age, duration of the GH and pubertal induc...

hrp0084p2-317 | DSD | ESPE2015

Next-Generation Sequencing as a Rapid Molecular Diagnosis in Patients with 46,XY Disorder of Sex Development

Ozen Samim , Onay Huseyin , Atik Tahir , Solmaz Asli Ece , Goksen Damla , Ozkinay Ferda , Darcan Sukran

Background: 46,XY DSD occurs as a result of testicular developmental disorders, defect in androgen synthesis or action. Nowadays, the diagnosis of DSD is quite costly and it takes a considerable amount of time due to lengthy hormonal and genetic analysis.Objective and hypotheses: The use of targeted next-generation sequencing of all known genes associated with 46 XY DSD for a fast molecular genetic diagnosis in patients in whom underlying defect of DSD w...

hrp0094p2-434 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

A case of gender developmental disorder with difficulty in molecular diagnosis: New variant in NR5A1 gene

Arslan Emrullah , Solmaz Aslı Ece , Aykut Ayca , Durmaz Asude , Atik Tahir , Goksen Damla , Ulman Ibrahim , Ozbaran Burcu , Ozen Samim , Darcan Sukran

"Steroidogenic Factor-1" (SF-1); It is encoded by the NR5A1 gene in 9q 33.3 and regulates the transcription of genes involved in steroidogenesis. It is reported that 46 of the variants in this gene constitute 10-20% of XY sex development disorders (DSD). The patient admitted because of a swelling in the left groin at one month old. She was raised as female. Uterus was 12x2.5 mm in ultrasonography and the gonad in the inguinal region was evaluated as testis. She was P...

hrp0095p1-549 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Genetic causes of combined pituitary hormone deficiency

Jalilova Arzu , Ece Solmaz Aslı , Ata Aysun , Atik Tahir , Eraslan Cenk , Özen Samim , Gökşen Damla , Darcan Şükran

Introduction: CPHD is characterized by impaired production of GH and one or more other pituitary hormones. Genetic defects causing CPHD typically result in insufficient anterior pituitary gland development.Aim: The aim of the study is to determine the genetic etiologies that lead tocombined hormone deficiencies. Todetermine phenotype genotype relationship with or without extra-pituitary anomalies.<...

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...

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...