hrp0092p1-236 | Multisystem Endocrine Disorders | ESPE2019

Serum Endocan Levels as a Marker of Endothelial Dysfunction in Turner Syndrome and Correlation with Cardiac Findings

Gencay Ali Genco , Darendeliler Feyza , Nisli Kemal , Karaca Serra , Kardelen Asli Derya , Poyrazoglu Sükran , Bas Firdevs

Background: The most common reason for the increased mortality and morbidity in TS, which results from partial or complete deficiency of an X chromosome in a female, is acquired cardiovascular disease, which is the result of endothelial dysfunction that causes atherosclerosis. Endocan, an inflamatory marker, has been found elevated in several diseases with endothelial dysfunction (ED). There is no study of endocan levels in TS.Ob...

hrp0092p2-195 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The Clinical Features and Effect of Growth Hormone Treatment in 3-M Syndrome Cases with Severe Growth Retardation

Pinar Öztürk Ayse , Altunoglu Umut , Karakiliç Özturan Esin , Toksoy Güven , Poyrazoglu Sükran , Bas Firdevs , Uyguner Oya , Darendeliler Feyza

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe prenatal and postnatal growth retardation caused by mutations in CUL7,OBSL1 or CCDC8.Clinical characteristics include dysmorphic facial features and skeletal abnormalities.Aim: Evaluation of clinical and molecular findings and the effect of growth hormone (GH) threrapy in seven patients with 3-M syndrome from five different familie...

hrp0092p1-390 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Genetic Evaluation of Idiopathic Short Stature

Karaman Birsen , Bas Firdevs , Najafli Adam , Avci Sahin , Kardelen Al Asli Derya , Toksoy Güven , Altunoglu Umut , Poyrazoglu Sükran , Uyguner Zehra Oya , Darendeliler Feyza , Basaran Seher

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...

hrp0092p1-145 | Thyroid | ESPE2019

The Investigation of Genetic Etiology in Familial Cases with Congenital Hypothyroidism

Kardelen Al Asli Derya , Isik Fatma Büsra , Özturan Esin Karakiliç , Sözügüzel Mavi Deniz , Öztürk Ayse Pinar , Poyrazoglu Sükran , Parlayan Cüneyd , Cangül Hakan , Bas Firdevs , Darendeliler Feyza

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...

hrp0092p1-262 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Outcome in Leydig Cell Hypoplasia

Boncompagni Alessandra , Bryce Jillian , Lucaccioni Laura , Iughetti Lorenzo , Acerini Carlo , Cuccaro Rieko T , Bertelloni Silvano , Hannema Sabine E , Darendeliler F Feyza , Poyrazoglu Sükran , Denzer Friederike , Batista Rafael L , Domenice Sorahia , Latronico Ana C , Mendonça Berenice B , Rey Rodolfo , Ahmed S Faisal

Background: Leydig Cell Hypoplasia (LCH) is a very rare autosomal recessive condition that is manifested by a wide spectrum of phenotypes, ranging from completely female external genitalia to male genitalia. Long-term outcome in these patients is unclear.Objectives: To assess sex assignment, clinical characteristics and long-term outcome of 46,XY LCH cases.Patients and Methods: Thr...

hrp0092p2-137 | Fat, Metabolism and Obesity | ESPE2019

Clinical Characteristics and Response to Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Evliyaoglu Olcay , Dagdeviren Cakir Aydilek , Bas Firdevs , Akin Onur , Siklar Zeynep , Özcabi Bahar , Berberoglu Merih , Kardelen Asli Derya , Bayramoglu Elvan , Poyrazoglu Sükran , Aydin Murat , Ergül Türel Ayça , Göksen Damla , Bolu Semih , Aycan Zehra , Tüysüz Beyhan , Ercan Oya

Introduction and aim: Prader-Willi syndrome(PWS), is a genetic disorder caused by the absence of paternal genes located on chromosome 15q11.2-q13. In this multi-central study; patients with PWS were followed for 2 years. Initial clinical and laboratory findings, growth hormone(GH) treatments and their responses were evaluated.Patients and Methods: 54 patients from 10 pediatric endocrine centers were involved and data was...