hrp0089p1-p134 | Fat, Metabolism and Obesity P1 | ESPE2018

Evaluation of Intraocular Pressure and Retinal Nerve Fiber Layer, Retinal Ganglion Cell, Central Macular Thickness and Choroidal Thickness Using Optical Coherence Tomography in Obese Children and Healthy Controls

Taner Baran Rıza , Baran Serpil , Fusun Toraman Naciye , Bilgilisoy Filiz Meral , Filiz Serkan , Demirbilek Huseyin

Objective: Obesity and its complications affecting many organ systems have been documented. Nevertheless, study conducted on the ophthalmological effects of obesity are scarce. The aim of the present study was to evaluate the changes in the ophthalmological parameters in obese children in comparison to their healthy counterparts.Material and methods: Study included 61 obese and 35 age-sex matched controls. Obesity was defined as body mass index- standard...

hrp0095rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Dysosteosclerosis is also caused by null mutations of TNFRSF11A

Kırkgöz Tarık , Ozkan Behzat , Acar Sezer , Hazan Filiz , Ikegawa Shiro , Guo Long

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...

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...

hrp0092p3-124 | Fat, Metabolism and Obesity | ESPE2019

Early Onset Monogenic Obesity: Two Cases with Homozygous Mutation in Lepr Gene

Nalbantoglu Ozlem , Acar Sezer , Koprulu Ozge , Arslan Gulcin , Ozkaya Beyhan , Hazan Filiz , Gursoy Semra , Ozkan Behzat

Introduction: Although the majority of the cases with obesity have a multifactorial etiology, rare monogenic forms of obesity exist. Several genetic disorders have been described that lead to early onset monogenic obesity. Leptin (LEP), leptin receptor (LEPR), melanocortin 4 receptor (MC4R), proprotein converting protein subtilisin / kexin-type 1 (PCSK1) and proopiomelanocortin (POMC) are the genetic mutations that have been most frequently shown to cause mono...

hrp0089p3-p090 | Diabetes & Insulin P3 | ESPE2018

Clinical and Laboratory Features at the Onset of Childhood Type 1 Diabetes Mellitus in the Nortwest Region (Trakya) of Turkey

Dilek Emine , Bezen Digdem , Ozguc Comlek Fatma , Ozkaya Beyhan , Tutunculer Filiz

Aim: To describe the clinical pattern and laboratory characteristics at presentation of a group of children with type 1 diabetes mellitus living in the Northwest region (Trakya) of Turkey.Methods: The clinical and laboratory data of a total of 315 children who presented with newly diagnosed type 1 diabetes mellitus during a 12 year period (2006–2018) were retrospectively analyzed based on hospital records. The data were assessed by gender and age su...

hrp0089p3-p226 | Growth & Syndromes P3 | ESPE2018

Etiologies of Short Stature in Pedaitric Endocrine Clinic in Northwest Region (Trakya) of Turkey

Ozkaya Beyhan , Dilek Emine , Bezen Diğdem , Ozguc Comlek Fatma , Tutunculer Filiz

Backround: Short stature (SS) is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of SS vary and are commonly grouped into pathological and nonpathological disorders. Despite standard clinical and laboratory evaluation, a pathological diagnosis is not reached in 50–90% cases.Aim: The aim of this study was to determine the etiologies and decribe the characteristic of short stature patients who were follo...

hrp0086p1-p755 | Pituitary and Neuroendocrinology P1 | ESPE2016

Gonadotropin-Releasing Hormone Stimulation Test in Girls Younger than 3 Years Old: Does the Stimulated LH Greater Than 5 IU/l Always Mark Central Puberty Precoccious?

Karabulut Gulcan Seymen , Atar Muge , Cizmecioğlu Filiz , Hatun Şukru

Background: Premature thelarche is the isolated breast development in girls <8 years of age unaccompanied by other signs of puberty including advanced bone age or growth spurt. The GnRH stimulation test is used to distinguish between premature thelarche and central precocious puberty.Objective and hypotheses: We studied accuracy of the gonadotropin responses to GnRH stimulation in predicting pubertal progression in children diagnosed with premature t...

hrp0084p1-1 | Adrenal | ESPE2015

Evaluation of Glucose Metabolism and Cardiovascular Risk Factors and Hyperandrogenemia in Prepubertal Girls with Premature Pubarche

Bezen Digdem , Tutunculer Filiz , Dilek Emine , Seleci Didem Ag , Erbas Hakan

Background: Premature pubarche (PP) is known to be a risk factor the development of metabolic syndrome (MS) and hyperandrogenism.Aims: To evaluate if glucose and insulin metabolism, cardiovascular risk factors and cardiovascular risk factors in family (FCVRF) create a risk for insulin resistance (IR) and if PP is a risk factor alone for MS and hyperandrogenism in normal weighted prepubertal PP girls.Methods: Prepubertal and non-obe...

hrp0094p1-79 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Concurrent hyperinsulinism and hypopituitarism in a 22 month old child due to a novel FOXA2 mutation

Kilci Fatih , Hurmuzlu Kozler Selen , Jones Jeremy , Ceylaner Serdar , Mine Cizmecioğlu Jones Filiz ,

Introduction: Co-existence of congenital hypopituitarism and congenital hyperinsulinemia is extremely rare. We present a case of congenital hypopituitarism and hyperinsulinemic hypoglycemia with a novel FOXA2 mutation.Case: A 22-month-old girl was referred to pediatric endocrinology due to short stature. She was the first child of healthy, non-consanguineous parents with no relevant family history. Delivery was by cesarean secti...

hrp0094p2-474 | Thyroid | ESPE2021

Recurrent fractures in a child with Graves' disease

Kilci Fatih , Jones Jeremy , Çizmecioğlu Jones Filiz Mine

Introduction: Graves' disease is the most common paediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with recurrent bone fractures is extremely rare.Case: A 10-year-old male patient, who had a pre-existing 7-year diagnosis of autism spectrum disorder, presented to emergency with right leg pain that started after collision with an armchair. On initial exami...