hrp0095rfc11.6 | Late Breaking | ESPE2022

Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

Cayir Atilla , Demirbilek Huseyin , Turkyılmaz Ayberk , Turan Serap , Bereket Abdullah , Darendeliler Feyza , Nuri Özbek Mehmet , Ünal Edip , Okdemir Deniz , Esen Ihsan , Eren Erdal , Yıldırım Ruken , Çetinkaya Semra , Cansu Sahin Kadriye , Anık Ahmet , Sena Dönmez Ayşe , Pınar Öztürk Ayşe , Bayramoğlu Elvan , Buyukinan Muammer , Gurbuz Fatih , Demir Korcan , Kılınç Suna , Betul Kaygusuz Sare , Çelmeli Gamze , Selvi Eklioglu Beray , Acar Sezer , Dursun Fatma , Turan Ihsan , Özkaya Beyhan , Kurnaz Erdal , Taner Baran Rıza , Özkan Behzat

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

hrp0086p2-p304 | Diabetes P2 | ESPE2016

Cardiovascular Risk and Long Term Follow-up of Turkish Children with Type 2 Diabetes: Single Center Experience

Guven Ayla , Demir Elif Gokce

Background: Type 2 diabetes (T2DM) increases in parallel with obesity in childhood. T2DM can be associated with cardiovascular risk (CVR) even childhood.Objective: To investigate the presence of CVR criterions in children with T2DM and to detect CVR as the earliest age as possible.Method: This study enrolled 84 (58 Girls) children with T2DM. OGTT was performed in 47 children. Biochemical and hormonal analyses were performed in fast...

hrp0089p3-p300 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Evaluation of Cases with Pubertal Gynecomastia

Nur Peltek Kendirci Havva , Demir Emre

Introduction and Aim: Pubertal gynecomastia is the transient proliferation of glandular tissue in breasts of men without any endocrin pathology. Relatively higher levels of estrogen than plasma testosteron levels and imbalance between tissue estrogen and testosteron levels are considered to be important in pathogenesis. In this study it is aimed to determine the clinical and laboratory properties of our patients who were diagnosed as pubertal gynecomastia and compare with heal...

hrp0089p3-p365 | Thyroid P3 | ESPE2018

The Reference and Follow-up Signs and Symptoms of the Cases Who Are Diagnosed As Hyperthyroidism

Gokce Demir Elif , Guven Ayla , Yildiz Metin

Objective: Hyperthyroidism is rarely seen in the childhood. In this study, we evaluated the reference sign and symptoms and following laboratory and treatment results of the hyperthyroidism cases.Method: Data of the 78 patients were extracted from hospital records retrospectively. Patients’ height, weight, BMI and laboratory results at the time of diagnosis are recorded. Antithyroid drug doses at the 2th, 6th, 12th months after diagnoses are compare...

hrp0089p3-p047 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Evaluation of Bone Mineral Density and Bone Metabolism Markers in Children Diagnosed as Celiac Disease

Nur Peltek Kendirci Havva , Comba Atakan , Demir Emre

Introduction and aim: Metabolic bone disorders due to calsium and vitamin D deficiency are one of the most frequent extraintestinal symptoms in Celiac disease. In this study it is aimed to evaluate bone mineral density in patients with Celiac disease during diagnose and evaluate the factors related to bone mineral metabolism.Material and Method: The study included 43 children diagnosed as Celiac disease between December 2015 and December 2017. Clinical, ...

hrp0089p3-p097 | Diabetes & Insulin P3 | ESPE2018

Evaluation of Relation between Diabetic Education Levels of Type 1 DM Child/Adolescent and Parents and Metabolic Control

Kendirci Havva Nur Peltek , Karayurt Umran , Demir Emre

Introduction and aim: The education of the diabetic patients and their parents is an important phase of diabetic treatment. It is accepted in general that good control in diabetes is not possible without enough knowledge and experience about diabetes. In this study it is aimed to evaluate the relation between diabetic education levels of type 1 DM child/adolescent and parents and metabolic control.Material and method: The study included the patients and ...

hrp0086p1-p221 | Diabetes P1 | ESPE2016

Continuous Glucose Monitoring and Hypoglycemia Unawareness in Children and Adolescents with Type 1 Diabetes

Demir Gunay , Ozen Samim , Cetin Hafize , Darcan Sukran , Goksen Damla

Background: Seeking strict normoglycemia in type 1 diabetes mellitus increases the risk of hypoglycemia, exposing to hypoglycemia unawareness. Hypoglycemia unawareness (HU) is defined as the occurrence of hypoglycemic symptoms directly without autonomic symptoms. This study is designed to determine the incidence of HU in children and adolescents with continuous subcutaneous glucose monitoring system and to assess the effect of structured education to improve awareness.<p c...

hrp0092p1-241 | Multisystem Endocrine Disorders | ESPE2019

A Novel DCAF17 Homozygous Mutation in a Girl with Woodhouse-Sakati Syndrome and its Role in the Endocrine Glands

Kurnaz Erdal , Türkyilmaz Ayberk , Yarali Oguzhan , Demir Berrin , Çayir Atilla

Background: 46,XX gonadal dysgenesis is a rare condition linked to delayed puberty, absence of spontaneous pubertal development, and primary amenorrhea related to hypergonadotropic hypogonadism (Hh). External genitalia are typically female with no ambiguity. Although ovarian development is an active process with multiple gene involvement, the genetic etiology of this condition is usually unknown. DCAF17 has recently been implicated in the development ...

hrp0086p2-p60 | Adrenal P2 | ESPE2016

A Case of Cushing’s Syndrome Due to Adrenocortical Adenoma with Pubarche and Obesity

Gurbuz Fatih , Cayir Atilla , Karakus Esra , Demir Rabia , Demirel Fatma , Senel Emrah

Background: Adrenocortical tumors in childhood represent very rare about 0.2% of all pediatric malignancies. Cushing’s syndrome (CS) is characterized by clinical features caused by autonomous excessive glucocorticoid production from adrenal cortex. In ACTH-independent CS, the most common cause is unilateral cortisol-producing adrenocortical adenoma.Objective and hypotheses: Fifteen months old girl was admitted with gradually gain weight, pubarche, a...

hrp0086p2-p172 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Potential Role of Vitamin D in Pathogenesis of Acute Rheumatic Fever

Hanedan Onan Sertac , Demirbilek Huseyin , Aldudak Bedri , Bilici Meki , Demir Fikri , Muhtar Yilmazer Murat

Background: Acute rheumatic fever (ARF) is a non-suppurative complication of Group A beta-hemolytic streptococcus pharyngitis. The underlying mechanisms have not been fully elucidated. A series of autoimmune processes are thought to be involved in pathogenesis. Low vitamin D levels have been reported in various autoimmune diseases.Objective and hypotheses: The aim of the present study is to evaluate the association of vitamin D levels and its impact on t...