hrp0084p3-652 | Bone | ESPE2015

Endocrine Function, Vitamin D and Bone Mass Status in β-Thalassemia Major

Altincik Ayca , Akin Mehmet

Background: Thalassemia major is a hemoglobin disorder characterized by regular transfusion requirement. Despite the regular transfusions and advanced iron chelation protocols, endocrine complications have been reported as the frequent morbidities of the disease.Objective and hypotheses: The aim of the study was to i) investigate the prevalence of endocrine complications, ii) to examine the relationship between endocrine complications and metabolic param...

hrp0084p3-881 | Fat | ESPE2015

Evaluatıon of the Relationship between Serum Adropın Levels and Blood Pressure in Obese Children

Altincik Ayca , Sayin Oya

Background: The prevalence of obesity and related cardiovascular comorbodities are increasing rapidly. Adipokines play the major role on the pathogenesis of obesity related inflammation and hypertension.Objective and hypotheses: The aim of the study was to evaulate the serum adropin levels in obese children and to determine the relationship between adropin levels and blood pressure in pediatric age group.Method: 40 obese children (...

hrp0084p3-1077 | Hypo | ESPE2015

Clinical Presentation of a Patient with a Novel Homozygous Mutation in the TRPM6 Gene

Altincik Ayca , Schlingmann Karl Peter

Background: Herediter hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individulals present at early infancy with severe hypocalcemia and hypomagnesemia which leads to tetany and seizures.Objective and hypotheses: In this report, we want to present the clinical features, treatment regimen, follow-up of a patient with a novel h...

hrp0094p2-272 | Growth hormone and IGFs | ESPE2021

Evaluation of the clinical and laboratory parameters and final adult height in patients treated with recombinant human growth hormone.

Sayin Emine , Altincik Ayca , Ozhan Bayram ,

The aim of this study was to investigate the clinical and laboratory features of patients who received recombinant human growth hormone (rhGH) treatment and to investigate the factors that determine the response to rhGH treatment. The clinical features of children treated at least one year with rhGH were retrospectively analyzed. Patients were grouped according to diagnosis; isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), Turner s...

hrp0082p3-d3-730 | Diabetes (2) | ESPE2014

Wolcott–Rallison Syndrome in Two Siblings with no Implication of EIF2AK3 Mutation

Altincik Ayca , Ozhan Bayram , Flanagan Sarah , Ellard Sian

Background: Wolcott–Rallison syndrome (WRS) which is characterized with permanent neonatal diabetes mellitus (PNDM), epiphyseal dysplasia, recurrent hepatitis and is caused by EIF2AK3 mutations.Objective and hypotheses: There is a possibility of a variant form of WRS, not caused by EIF2AK3 mutation.Method: Case 1: She was born at term from consanguineous parents. Family history was unremarkable. She had been ...

hrp0082p1-d2-77 | Diabetes (1) | ESPE2014

Molecular Genetic Analysis of Maturity Onset Diabetes of the Young (Mody) Genes in Children by Using Targeted Next-Generation Sequencing

Anik Ahmet , Catli Gonul , Tuhan Hale Unver , Abaci Ayhan , Korkmaz Huseyin Anil , Ozkan Behzat , Sari Erkan , Yesilkaya Ediz , Altincik Ayca , Kizildag Sefa , Bober Ece

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...

hrp0094p2-121 | Diabetes and insulin | ESPE2021

The effect of glycemic variability on DNA damage in pediatric patients with type 1 Diabetes Mellitus

Gokmen Gokhan , Altincik Ayca , Kılıc Erkek Ozgen , Tunc Ata Melek , Kılınc Toprak Emine , Kucukatay Vural , Ozhan Bayram ,

Increased glycemic variability is an important risk factor in terms of complications independent of HbA1c. The aim of this study was; to investigate the relationship between continuous glucose monitoring system (CGMS) indices and clinical data, to investigate DNA damage in patients with diabetes and to evaluate the effect of glycemic variability on DNA damage. Fifty patients with T1DM, aged under 18 years old, who were followed up at least one year in Pediatric Endocrinology D...