hrp0089p2-p335 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

The Effect of Polychlorinobiphenyls on Premature Puberty in Girls

Guven Raziye Burcu , Ozen Samim , Gokşen Damla , Korkmaz Ozlem , Darcan Şukran

Introduction: Studies show that onset of puberty in girls is occurring at increasingly younger ages. Environmental endocrine disruptors are implicated in the etiology of early puberty. Polychlorobiphenyls (PCBs) are one of the endocrine disruptor with proven estrogenic effects.Aim: To investigate the effect of PCBs on premature puberty in girls.Materials-Methods: The study group was selected from girls aged 2–8 years with a di...

hrp0089p3-p349 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Mother and Baby Diagnosed Noonan Syndrome with Dysmorphic Findings

Keskin Mehmet , Aytac Kaplan Emel H , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Noonan syndrome; is an autosomal dominant genetic disorder characterized by short stature, low hair line, webbed neck, cubitus valgus, chest wall deformities and congenital heart defects. Here; the patient was admitted to hospital by parents due to undescended testis and finally infant and mother were diagnosed Noonan syndrome.Case: A 14-month-old male patient was admitted to hospital because of bilateral undescended testis. On physical examin...

hrp0089p2-p376 | Thyroid P2 | ESPE2018

Long Term Monitoring of Graves Disease in Children and Adolescents: Single Center Experience

Tunc Selma , Koprulu Ozge , Ortac Hatice , Nalbantoğlu Ozlem , Dizdarer Ceyhun , Demir Korcan , Ozkan Behzat

Introduction: Antithyroid Drugs (ATD) are generally preferred at the onset of treatment with no consensus on the duration of ATD (propylthiouracil, methymasole) treatment Graves disease in children.Objective: Examining the effectiveness of ATD treatment on children and adolescents and determining the risk factors of remission and relapse.Method: A total of 45 cases with ages varying between 1–18 years diagnosed with Graves dis...

hrp0082p2-d3-357 | Diabetes (2) | ESPE2014

Early-Onset Autoinflammatory Partial Lipodystrophy Characterized by Recurrent Fever and Rash: Candle Syndrome

Demir Korcan , Yildiz Melek , Makay Balahan , Korkmaz Huseyin Anil , Elmas Ozlem Nalbantoglu , Ozkan Behzat

Background: CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome is a recently described autoinflammatory disease that manifests in early infancy with recurrent fever, violaceous swelling of the eyelids, purpuric skin lesions, hypochromic anemia and elevated acute phase reactants. It is autosomal recessively inherited and associated with partial lipodystrophy, growth retardation and hepatomegaly. PSMB8 (proteasome subu...

hrp0082p2-d1-367 | Fat Metabolism & 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...

hrp0082p2-d2-583 | Sex Development (1) | ESPE2014

Novel Mutation in a Newborn with a Rare Cause of 46,XY Sex Reversal: 17β- Hydroxysteroid Dehydrogenase Type 3 Deficiency

Demir Korcan , Yildiz Melek , Elmas Ozlem Nalbantoglu , Korkmaz Huseyin Anil , Ozkan Behzat

Background: 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of 46,XY sex reversal due to a defect in conversion of androstenedione to testosterone. It is autosomal recessively inherited and caused by mutations in 17HSD3.Objective and hypotheses: To define clinical and laboratory characteristics of 17β-HSD3 deficiency during neonatal period.Method: An 8-day-old newborn with female externa...

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 ...

hrp0084p1-12 | Bone | ESPE2015

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malign Infantile Osteopetrosis

Demir Korcan , Nalbantoglu Ozlem , Karaer Kadri , Korkmaz Huseyin Anil , Yildiz Melek , Tunc Selma , Ozkan Behzat

Aim: Osteopetrosis is caused by autosomal mutations occurring in nine genes (TNFRSF11A, TNFSF11, TCIRG1, CLCN7, OSTM1, SNX10, PLEKHM1, CA2, and LRP5). Detecting the aetiology and providing genetic counselling via individual mutation analysis of all these genes is expensive and time consuming. Whole exome sequencing is currently increasingly used given that the cost and the time needed are similar to that of single gene sequencing analysis. Here, two newborns,...

hrp0084p1-153 | Miscelleaneous | ESPE2015

Growth Curves for Height, Weight, BMI and Head Circumference in Children with Achondroplasia

Dogan Murat , Aydin Ilyas , Bala Keziban Asli , Kaba Sultan , Gulpunar Ozlem

Background: Close monitoring of growth is vital when following children with achondroplasia yet existing growth curves suffer from a simple chart format and their clinical use is therefore limited. Also, references for body proportions; i.e. sitting height, relative sitting height and arm span, are lacking.Objective and hypotheses: The aim of this study was to construct age-specific growth curves for height, weight, BMI, head circumference and body propo...

hrp0084p2-238 | Bone | ESPE2015

Can Vitamin D Deficiency Cause Prolongation in Visual Evoked Potentials?

Dogan Murat , Aydin Ilyas , Kaba Sultan , Bala Keziban Asli , Gulpinar Ozlem

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects. In recent studies, it was shown that vitamin D could be protective against in age-related macular degeneration and optic neuritis related to demyelinating disorders. Here, we aimed to perform visual evoked potential (VEP) studies before treatment in patients with rickets...