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...

hrp0082p2-d2-271 | Adrenals & HP Axis (1) | ESPE2014

The Results of CYP21A2 Mutation Analysis in Adolescent with Polycystic Ovary Syndrome

Yagli Colakoglu Elif , Bulus Derya , Andiran Nesibe , Ufuk Isin Ugur

Background: Diagnosis of polycystic ovary syndrome (PCOS) in the adolescent is difficult due to high background rate of menstrual irregularity, high prevalence of polycystic morphology and hyper and rogenic features in this population. Also late onset congenital adrenal hyperplasia (LOCAH) mimics PCOS in this period. It is important to distinguish these entities because of the differences in their therapy. The study aimed to find out the frequency of LOCAH in patients who diag...

hrp0092p1-71 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Clinical, Biochemical and Echocardiographic Evaluation of Patients with Congenital Rickets Due to Maternal Vitamin D Deficiency

Cayir Atilla , Akyigit Ali , Gullu Ufuk Utku , Kahveci Hasan , Yildiz Duran , Kurnaz Erdal , Vuralli Dogus , Kaya Abdulkadir , Demirbilek Huseyin

Objective: Vitamin deficient (VDD) rickets can manifest with skeletal (hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase and defective bone mineralization) and extra-skeletal findings. There are certain number of case reports and limited number of small scale studies reporting dilated cardiomyopathy due to VDD rickets.The aim of the present study is to evaluate the clinical, biochemical and echocardiographic features of...