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Öğe Diabetes Care, Glycemic Control, Complications, and Concomitant Autoimmune Diseases in Children with Type 1 Diabetes in Turkey: A Multicenter Study(Galenos Yayincilik, 2013) Şimşek, Damla Göksen; Aycan, Zehra; Özen, Samim; Çetinkaya, Semra; Kara, Cengiz; Abalı, Saygın; Darcan, ŞükranObjective: Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management of T1DM is to prevent micro- and macrovascular complications by achieving good glycemic control. The present study aimed to assess metabolic control, presence of concomitant autoimmune diseases, and of acute and long-term complications in patients diagnosed with T1DM during childhood and adolescence. The study also aimed to be a first step in the development of a national registry system for T1DM, in Turkey. Methods: Based on hospital records, this cross-sectional, multicenter study included 1 032 patients with T1DM from 12 different centers in Turkey, in whom the diagnosis was established during childhood. Epidemiological and clinical characteristics of the patients were recorded. Metabolic control, diabetes care, complications, and concomitant autoimmune diseases were evaluated. Results: Mean age, diabetes duration, and hemoglobin A1c level were 12.5 +/- 4.1 years, 4.7 +/- 3.2 years, and 8.5 +/- 1.6%, respectively. Acute complications noted in the past year included ketoacidosis in 5.2% of the patients and severe hypoglycemia in 4.9%. Chronic lymphocytic thyroiditis was noted in 12%, Graves' disease in 0.1%, and celiac disease in 4.3% of the patients. Chronic complications including neuropathy, retinopathy, and persistent microalbuminuria were present in 2.6%, 1.4%, and 5.4% of the patients, respectively. Diabetic nephropathy was not present in any of the patients. Mean diabetes duration and age of patients with neuropathy, retinopathy and microalbuminuria were significantly different from the patients without these long-term complications (p<0.01). A significant difference was found between pubertal and prepubertal children in terms of persistent microalbuminuria and neuropathy (p=0.02 and p<0.001, respectively). Of the patients, 4.4% (n:38) were obese and 5% had short stature; 17.4% of the patients had dyslipidemia, and 14% of the dyslipidemic patients were obese. Conclusions: Although the majority of the patients in the present study were using insulin analogues, poor glycemic control was common, and chronic complications were encountered.Öğe Life quality in girls with Turner syndrome a cross sectional study(Karger, 2008) Bideci, Aysun; Evliyaoğlu, Olcay; Çetinkaya, Ergun; Aycan, Zehra; Berberoğlu, Merih; Şıklar, Zeynep; Yüksel, Bilgin…Öğe Management of Thyrotoxicosis in Children and Adolescents: A Turkish Multi-center Experience(2019) Esen, İhsan; Bayramoğlu, Elvan; Yıldız, Melek; Aydın, Murat; Özturhan, Esin; Aycan, Zehra; Sağsak, ElifObjective: To determine the demographic and biochemical features of childhood and juvenile thyrotoxicosis and treatment outcome.Methods: We reviewed the records of children from 22 centers in Turkey who were diagnosed with thyrotoxicosis between 2007 to 2017.Results: A total of 503 children had been diagnosed with thyrotoxicosis at the centers during the study period. Of these, 375 (74.6%)had been diagnosed with Graves’ disease (GD), 75 (14.9%) with hashitoxicosis and 53 (10.5%) with other less common causes ofthyrotoxicosis. The most common presenting features in children with GD or hashitoxicosis were tachycardia and/or palpitations, weightloss and excessive sweating. The cumulative remission rate was 17.6% in 370 patients with GD who had received anti-thyroid drugs(ATDs) for initial treatment. The median (range) treatment period was 22.8 (0.3-127) months. No variables predictive of achievingremission were identified. Twenty-seven received second-line treatment because of poor disease control and/or adverse events associatedwith ATDs. Total thyroidectomy was performed in 17 patients with no recurrence of thyrotoxicosis and all became hypothyroid. Tenpatients received radioiodine and six became hypothyroid, one remained hyperthyroid and restarted ATDs and one patient achievedremission. Two patients were lost to follow up.Conclusion: This study has demonstrated that using ATDs is the generally accepted first-line approach and there seems to be lowremission rate with ATDs in pediatric GD patients in Turkey.Öğe Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort(Endocrine Soc, 2016) Güran, Tülay; Buonocore, Federica; Saka, Nurçin; Özbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Achermann, John C.Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.