hrp0095p2-15 | Adrenals and HPA Axis | ESPE2022

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency

Ata Aysun , Anlaş Özlem , Özalp Özge

Introduction: The aldosterone synthesis is dependent on aldosterone synthase (AS), an enzyme encoded by the CYP11B2gene, one of the cytochrome P450 enzymes (P450c11Aldo). It catalysis the final steps of adosterone biosynthesis.Case: A 10 days old boy is presented with poor feeding, jaundice and weight lost. He was born from a 35 years old mother, as 4 th children, from consanguineous parents. One sister and one brother o...

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 (...

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...

hrp0094p2-141 | 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 ...

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...

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...

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...

hrp0094p2-423 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Diagnostic dilemma in a patient with central precocious puberty: Ovarian steroid cell tumor

Balki Hanife Gül , Ata Aysun , Karayazılı Ayşe Merve , Serin Gürdeniz , Koç Gonca , Özdemir Necmettin , Çelik Ahmet , Özen Samim , Gökşen Damla , Darcan Şükran

Ovarian steroid cell tumors (OSCT) are rare sex cord stromal tumors of the ovary and comprise <0.1% of all ovarian tumors. We herein report a case of an OSCT in a 9 year old girl patient who presented with central puberty preocious unresponsive to gonadotrophine relasing hormon analog (GnRH) therapy. A 9 year old girl presented with breast development noticed 4 months ago and menarche 3 months ago. Her height was 141,5 cm (+1,3 SDS), body weight was 35.4 kg (+0.9 SDS) and...