hrp0082p2-d1-262 | Adrenals & HP Axis | ESPE2014

Mutation Spectrum of CYP11B1 Gene in Turkish Patients with 11β-hydroxylase Deficiency

Kandemir Nurgun , Yilmaz Didem Yucel , Gonc E Nazli , Ozon Z Alev , Alikasifoglu Ayfer , Dursun Ali , Ozgul R Koksal

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...

hrp0094p1-62 | Diabetes B | ESPE2021

Epidemiology of type 1 diabetes in children and adolescents: a 50-year, single center experience

Vuralli Dogus , Ozon Z. Alev , Gonc E. Nazli , Ardicli Didem , Jalilova Lala , Gulcek Omer Nazım , Alikasifoglu Ayfer ,

Introduction: Global variations in epidemiology of type 1 diabetes (T1D) exist worldwide. This study is designed to determine the demographic and clinical characteristics of T1D in the past three decades, and to analyze changing trends in epidemiology over the past 50 years.Methods: Epidemiological and clinical characteristics of 925 patients with T1D were analyzed in three decades between 1991 and 2019. In addition, pre...

hrp0089p2-p329 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Gender-Related Differences in Etiological Distribution of Organic Causes of Central Precocious Puberty

Vuralli Dogus , Ozon Alev , Gonc Nazli , Kandemir Nurgun , Alikasifoglu Ayfer

Introduction: Organic lesion underlying central precocious puberty (CPP) is common in boys, and rare in girls. We aimed to compare the etiological distribution of organic causes according to gender, and define the clinical-laboratory characteristics that predict an organic cause to CPP.Subject and methods: Medical records of 260 girls and 120 boys with CPP were reviewed retrospectively to analyze the clinical, laboratory characteristics, radiological fin...

hrp0082p1-d2-154 | Growth (1) | ESPE2014

Clinical and Laboratory Parameters Predicting a Requirement for Reevaluation of GH Status During GH Treatment

Vuralli Dogus , Gonc Nazli , Ozon Alev , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Reevaluation of children diagnosed as GH deficiency (GHD) showed 25–75% of cases had normal GH responses in retests after cessation of therapy. Low reproducibility and high intra-individual variability of the tests are the important problems in diagnosis. Repeat evaluation during treatment may help detect cases with normal GH status earlier.Objective and hypotheses: We repeated stimulation tests following the first year of GH treatment t...

hrp0089rfc9.3 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

What is the Best Parameter to Decide the Initial Dose of Depot Leuprolide Acetate in Girls with Idiopathic Central Precocious Puberty?

Vuralli Dogus , Alikasifoglu Ayfer , Iyigun Irem , Canoruc Dicle , Ozon Alev , Gonc Nazli , Kandemir Nurgun

Introduction: Formulations and doses of GnRH analogues used to treat idiopathic central precocious puberty (iCPP) may vary with clinician preference or local approvals. Aim of this study is to define factors that affect initial depot leuprolide acetate (LA) dose which suppress hypothalamo-pituitary-gonad (HPG) axis in girls with iCPP.Methods: A total of 220 girls receiving LA for iCPP were included. LA is started in the dose of 3.75 mg/28 days, and suppr...

hrp0089p1-p130 | Fat, Metabolism and Obesity P1 | ESPE2018

The Frequency of Obstructive Sleep Apnea in Children with Hypothalamic and Exogenous Obesity

Iyigun Irem , Alikasifoglu Ayfer , Ozon Alev , Gonc Nazli , Hizal Mina , Eryilmaz Sanem , Kiper Nural , Ozcelik Ugur

Introduction: Hypothalamus is an important regulator of sleep onset, sleep maintenance and wakefulness as well as appetite control. Thus, hypothalamic damage can lead to both sleep dysregulation and severe morbid obesity. So, sleep apnea may be more prevalent and severe in obesity due to hypothalamic damage in comparison to exogenous obesity.Aim: We aim to compare frequency and severity of obstructive sleep apnea (OSA) in children with hypothalamic and e...

hrp0084p2-244 | Diabetes | ESPE2015

Diabetes Mellitus and Hypoparathyroidism in a Girl with Mitochondrial Disease

Buyukyilmaz Gonul , Gonc Nazli , Haliloglu Goknur , Talim Beril , Ozon Alev , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Mitochondrial disease is an uncommon cause of diabetes mellitus and hypoparathyroidism in children. Coexistence of these two endocrinopathies in a child with mitochondrial disease is extremely rare.Case report: An 11-year-old girl was diagnosed with type 1 diabetes mellitus due to a blood glucose of 300 mg/dl. Simultaneous C-peptide and insulin were very low, however anti-GAD, anti-islet cell and anti-insulin antibodies were negative. HbA1c w...

hrp0084p3-1080 | Hypo | ESPE2015

Severe Congenital Hyperinsulinism in a Neonate Homozygous for Two Novel Missense Mutations in the KCNJ11 Gene

Ozon Alev , Alikasifoglu Ayfer , Ellard Sian , Flanagan Sarah , Gonc Nazli , Orhan Diclehan , Ekinci Saniye , Kandemir Nurgun

Background: Congenital hyperinsulinism (CHI) is a heterogenous disorder characterized by hyperinsulinaemic hypoglycaemia, and may present in the neonatal period in severe forms of the disease. Molecular defects involving eight genes has been described so far. Herein we report a case of severe, diazoxide unresponsive CHI caused by two homozygous novel missense mutations in the KCNJ11 gene.Case report: An 8-day old girl was referred for hyperinsul...

hrp0094fc10.6 | Thyroid | ESPE2021

Clinical features and long-term follow up of childhood papillary thyroid cancer (PTC): a single reference-center experience

Ozon Alev , Canoruc Emet Dicle , Gonc Nazli , Vuralli Dogus , Buyukyilmaz Gonul , Kandemir Nurgun , Alikasifoglu Ayfer ,

Background: Thyroid cancer before 20 years of age constitutes less than 2% of thyroid malignancies. Adult guidelines have been used in evaluation and follow-up of children until 2015. Features and long-term results of more children with PTC are needed to improve the ATA guideline for children. The aim of this study is to evaluate children with PTC in the last 15 years in a single reference-center, and assess the convenience of ATA 2015 guideline in practice.</...

hrp0097p1-346 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Does premature adrenarche affect adult height in girls?

Vuralli Dogus , Oguz Demir Osman , Celep Ismahan , Gonc Nazli , Ozon Alev

Background: Premature adrenarche (PA) is characterized by an advanced bone age (BA) relative to chronological age (CA); nevertheless, clinical importance of this is not entirely understood. Literature contains few data on the impact of increased BA on adult height (AH) in PA. Objective of this study is to assess AH in girls with PA, and factors influencing AH.Methods: Retrospective analysis was carried out on 477 girls w...