hrp0095p2-312 | Late Breaking | ESPE2022

Karyotype-phenotype correlation and associated problems in patients with Turner Syndrome: a single center Turkish experience

Tepe Derya , Kocaay Pinar

Background: Turner syndrome (TS) is a genetic disorder related to complete or partial absense of the second X chromosome. TS is characterized by short stature, multiple skeletal anomalies, gonadal failure, autoimmune diseases and multiple congenital organ anomalies. This study aimed to determine phenotype and karyotype correlation and define the frequency of associated problems in TS patients.Methods: Our retrospective s...

hrp0095p2-311 | Late Breaking | ESPE2022

A novel 2q12 duplication causes intellectual disability and short stature in a Turkish family

Kocaay Pınar , Tepe Derya , Cevdet Ceylan Ahmet

Copy-number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. CNVs have been associated with different clinical phenotypes, such as learning disabilities, short stature, and intellectual disability. The chromosomal microarray analysis is an effective diagnostic method for identifying new CNVs and understanding their clinical effects. In this case report, a variation that has not been rep...

hrp0082p3-d2-776 | Fat Metabolism & Obesity (1) | ESPE2014

Prevalence of Dyslipidemia and Associated Factors Among Obese Turkish Children

Elmaogullari Selin , Tepe Derya , Ucakturk Ahmet , Demirel Fatma

Background: Obesity prevalence among children increased worldwide in last three decades. Childhood onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of cardiovascular diseases.Objective and hypotheses: This study is designed to evaluate the prevalence and related factors of dyslipidemia among obese children and adolescent.<p c...

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...

hrp0097p2-202 | Adrenals and HPA Axis | ESPE2023

Rare Association of 11 Beta Hydroxylase Deficiency and Gitelman Syndrome and Overlapping Symptoms

Kocaay Pınar , Yardımcı Gönül , Tepe Derya

11 Beta Hydroxylase Deficiency and Gittelman Syndrome are two rare autosomal recessive diseases. Our patient, whose brother had 11 beta Hydroxylase Deficiency, was diagnosed at the antenatal period. We detected hypomagnesemia, hypokalemia, hypocalciuria and metabolic alkalosis at the age of 3 years and 8 months, after vomiting and diarrhea. In our patient, a homozygous mutation was detected in the SLC12A3 gene at the c.1049C>T (p. Ser350Leu) (rs7785585043) location. There i...

hrp0095p2-303 | Late Breaking | ESPE2022

Donohue syndrome in a Turkish infant: Mild clinical course despite severe genetic mutation

Tepe Derya , Kocaay Pinar , Cakir Gundogan Secil , Sirma Dokuzboy Refika , Boyraz Mehmet

Donohue syndrome(DS) is a rare and often lethal autosomal recessive disease. Its prevalence is estimated less than one in a million live births. Mutations in the insulin reseptor (INSR) gene cause rare severe INSR-related insulin resistance syndromes such as DS. It is characterized by severe insulin resistance (hyperinsulinemia, fasting hypoglycemia and postprandial hyperglycemia), intrauterine and postnatal growth retardation, hypotonia, organomegaly including heart, liver, k...

hrp0082p2-d1-367 | Fat Metabolism &amp; Obesity | ESPE2014

Prevalence of Idiopathic Intracranial Hypertension and Related Factors in Obese Children and Adolescents

Tepe Derya , Demirel Fatma , Seker Esra Dag , Tayfun Meltem , Esen Ihsan , Kara Ozlem , Arhan Ebru Petek

Background: Idiopathic intracranial hypertension (IIH) is a disorder of elevated intracranial pressure without any evidence of intracranial pathology or underlying systemic disease. Obesity was reported as a significant cause of IIH in childhood especially in adolescents.Objective and hypotheses: IIH is a disorder of elevated intracranial pressure without any evidence of intracranial pathology or underlying systemic disease. Obesity was reported as a sig...

hrp0082p3-d3-804 | Gonads and Gynaecology | ESPE2014

Complete Blood Count Parameters in Girls with Polycystic Ovary Syndrome

Ucakturk Ahmet , Demirel Fatma , Tayfun Meltem , Tepe Derya , Elmaogullari Selin , Kara Ozlem

Background: Polycystic ovary syndrome (PCOS) is characterized by ovulatory dysfunction and excess androgen secretion. Androgens may affect bone marrow cells via androgen receptor which expressed in the bone marrow. Also it is known that especially testosterone increases hemoglobin and hematocrit concentrations.Objective and hypotheses: Our aim in this study is to describe the relation between hyperandrogenism and complete blood count (CBC) parameters in ...

hrp0097p1-25 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A case of hypophosphatasia accompanying neurofibromatosis type 1

Tepe Derya , Gören Refika , Toksoy Adıgüzel Kezban , Kocaay Pınar

Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease. The NF-1 gene is located on chromosome 17 and encodes a gene product called neurofibromin. Mutation or deletion of the NF-1 gene results in phenotypic features involving many systems. Hypophosphatasia is a group of inherited disorders characterized by impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It occurs as a result of a loss-of-...

hrp0097p2-134 | Fat, Metabolism and Obesity | ESPE2023

Short-term data of the newly opened pediatric obesity center in Ankara

Kocaay Pınar , Adıgüzel Kezban , Tepe Derya , Boyraz Mehmet

Childhood obesity has emerged as an important public health problem in the worldwide. It is important to follow these cases in multidisciplinary centers at an early age in order to prevent metabolic and psychosocial comorbidities that may develop. Bariatric surgery is a treatment method whose frequency is increasing in adolescent obesity. In the study, the 6-month results of the patients who applied to the obesity center were shared.Materials-Met...