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...

hrp0082p2-d2-580 | Sex Development (1) | ESPE2014

The V89L Polymorphism in the SRD5A2 Gene in Cases with Undescended Testis

Yesilada Elif , Akinci Aysehan , Gulbay Gonca , Yuksel Sengul , Savaci Serap

Background: Steroid 5α-reductase catalyzes the conversion of testosterone into the more active androgen, dihydrotestosterone (DHT). In 46, XY patients with recessive mutations in steroid 5α-reductase type 2 enzyme (SRD5A2) gene, the degree of ambiguity ranges from isolated hypospadias to severe undermasculinization. SRD5A2 gene is located on chromosome 2 (p23 region) and is comprised of five exons and four introns.Objective and hypotheses: Mult...

hrp0082p3-d2-683 | Bone (1) | ESPE2014

Two Different Diagnosis of Pseudohypoaldosteronism

Bulus Derya , Andiran Nesibe , Colakoglu Elif Yagli , Altuntas Nilgun

Background: Pseudohypoaldosteronism (PHA) is a disorder caused by aldosterone resistance with impaired sodium reabsorption and potassium excretion from the body. PHA is subdivided into primary (genetic) and secondary (transient) forms. Primary PHA is caused by mutations in genes encoding epithelial sodium channel or mineralocorticoid receptors. The secondary PHA may occur due to urinary tract malformations, urinary tract infections (UTI), drugs, etc. We present here two cases ...

hrp0084p3-885 | Fat | ESPE2015

Is vitamin D Important Player in Hepatosteatosis in Childhood Obesity?

Ozsu Elif , Topcu Feyza Nur , Tepe Derya Acar

Background and aim: Childhood obesity is one of the most serious public health problem. Obesity-related complications such as hepatic steatosis or type 2 diabetes can now be monitored even during early childhood. The aim of the study was to examine the relationship between vitamin D levels and obesity with hepatosteatosis (HS) in children.Methods: A total of 128 children with obesity were included in this study. HS was diagnosed using ultrasonography. HS...

hrp0097p1-541 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Prediction of Adult Height Based on Automated Bone Age Estimation in Early Puberty: A Single-Center Prospective Study

Huseyin Yigit Murat , Yesiltepe Mutlu Gul , Eviz Elif , Hatun Sukru

Introduction: In cases of precocious puberty, an important factor in making treatment decisions is when adult height estimates based on bone age (BA) determination are behind midparental height. In Turkey, clinicians often use the Greulich Pyle (GP) atlas to determine BA, which can lead to significant differences between assessors. The aim of this study was to compare estimated adult height (EAH) calculations based on BA determined by the automated BoneXpert m...

hrp0095p1-50 | Diabetes and Insulin | ESPE2022

An Evaluation of MiniMed™ 780G System Performance in Childhood: A Single Center Experience from Turkey

Eviz Elif , Gul Yesiltepe Mutlu R. , Can Ecem , Gokce Tugba , Muradoglu Serra , Hatun Sukru

Introduction: Automated insulin delivery systems provide significant improvement in the time in range(TIR) centered diabetes care. This study analyzes the real-word performance of Minimed 780G™system-Advanced Hybrid Closed Loop(AHCL) in children from a single center.Methods: Of the 93 children started to use AHCL between January 2021 and April 2022, 64 whose data could be accessed were included. 3,6,9 and 12 month-...

hrp0095p2-282 | Thyroid | ESPE2022

Papillary Tyhroid Carcinoma in Two Siblings With Congenital Famial Hypothyroidism

Inan Balcı Elif , Yılmaz Melek , Poyrazoğlu Şükran , Baş Firdevs , Darendeliler Feyza

Backround: Cases diagnosed with congenital hypothyroidism are considered to be at risk of thyroid nodule formation and subsequent thyroid carcinoma due to TSH overstimulation. Few cases has been reported hitherto. We are presenting two siblings diagnosed with congenital hypothyroidism due to dyshormogenesis who developed thyroid papillary carcinoma during follow up.Case presentation: Case 1 was born at term as the first ...

hrp0092fc6.4 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Metabolically Unhealthy Obese Children and Adolescents Have Higher Bone Mineral Density Than Normal Weighted Controls but Lower than Metabolically Healthy Obeses: No Effect of FGF21 Levels

Akduman Filiz , Siklar Zeynep , Ozsu Elif , Doğan Ozlem , Kir Metin , Berberoglu Merih

Introduction: The harmfull or benefical effect of obesity on bone mineral density (BMD) is remain controversial in children and adolescence. Either increase or decrease of BMD have been reported. Several factors such as insülin resistance, prediabetes, high proportion of fat mass, sedentary lifestyle were suggested to cause the differences of BMD in obesity. FGF-21 is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipi...

hrp0092p3-8 | Adrenals and HPA Axis | ESPE2019

Typical Phenotype of Isolated Aldosterone Synthetase (AS) Deficiency in two Infants with Heterozygous AS Gene Mutation: Dilemma for Diagnosis

Ozsu Elif , Ceran Aysegul , Uyanik Rukiye , Bilici Esra , Cetin Tugba , Siklar Zeynep , Aycan Zehra , Berberoglu Merih

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

hrp0089rfc8.5 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Latest Progress in Tissue Engineered Urethral Regeneration: From Rabbit to Dog, a Step from Human Clinical Trial for Surgical Treatment of VSD (Variation of Sex Development)

Pinnagoda Kalitha , Vythilingam Ganesh , Vardar Elif , Ballet Eva-Maria , Tambidorai CR , Frey Peter , Larsson Hans-Mattias

Introduction: Treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, is associated with high rate of post-operative complications using current surgical procedures. This leads to a high rate of re-operation in an already emotionally complicated situation. We improved the tissue engineered acellular tubular collagen scaffolds that showed promising results in the rabbit model to implant it to a dog model. This FDA approved new version ac...