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Objective: Among screen-addicted children, there is a risk of insulin resistance (IR), obesity, hypertriglyceridemia and diabetes mellitus type 2 due to decreased physical activity and irregular eating habits. Most recently, relations of screen addiction (SA) and attention-deficit hyperactivity disorder (ADHD) with obesity have been reported. Herein, we aimed to investigate the presence of IR and dependent factors in screen-addicted children with and without obesity. Method: A total of 108 children in the age range of 11-17 years were included in the study. Cases were divided into three groups according to ADHD and SA scale scores. In these three groups, there were equal numbers of obese and non-obese patients. Homeostasis model assessment for insulin resistance (HOMA-IR) of the patients was assessed at baseline. Body fat analysis was performed with TANITA BC-420 MA body composition analyzers. All cases wore pedometers for 3 days to determine their basal metabolic rates (BMR) during active and sedentary periods. Carbohydrate, fat and calorie consumption was calculated using a professional nutrition program. Results: There were no statistically significant differences between the SA and non-SA groups on the energy consumption, BMR and fat mass and dietary contents. There was no effect of ADHD and SA on HOMA-IR values. Conclusion: We did not find any association between SA and IR. Also dependent factors were similar between groups. New studies are needed to determine how SA affects obesity., Ege University Scientific Research Projects (EGEBAP) [2013-TIP-017], This project was supported by Ege University Scientific Research Projects (EGEBAP) with grant number 2013-TIP-017.

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It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients' families, the diagnosis of CD remains challenging. In light of this, a joint working group, the Type 1 Diabetes and Celiac Disease Joint Working Group, was convened, with the aim of reporting institutional data and reviewing current international guidelines, in order to provide a framework for clinicians. Several controversial issues were discussed: For CD screening in children with T1D, regardless of age, it is recommended to measure tissue transglutaminase-immunoglobulin A (tTG-IgA) and/or endomysial-IgA antibody due to their high sensitivity and specificity. However, the decision-making process based on tTG-IgA titer in children with T1D is still debated, since tTGIgA titers may fluctuate in children with T1D. Moreover, seronegativity may occur spontaneously. The authors' own data showed that most of the cases who have biopsy-proven CD had tTG-IgA levels 7-10 times above the upper limit. The decision for endoscopy based solely on tTG-IgA levels should be avoided, except in cases where tTG-IgA levels are seven times and above the upper limit. A closer collaboration should be built between divisions of pediatric endocrinology and gastroenterology in terms of screening, diagnosis and follow-up of children with T1D and suspicious CD.

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Background: Diabetes management and achieving good glycemic control are challenging in preschool period. Continuous subcutaneous insulin infusion (CSII) is the treatment of choice for managing type 1 diabetes mellitus (T1DM), especially in children under seven years of age. Objective: To compare the glycemic control (HbA1c), anthropometric measurements, daily insulin requirement and basal and bolus insulin rates of the group using CSII as initial therapy with the group using multiple initial daily injection (MDI) treatment. Method: Ten children with T1DM using CSII as a first-line therapy, who were followed up regularly for at least 1 year, and 10 children using MDI, who were similar in terms of age and gender with CSII group, were included in this retrospective study. Daily total insulin (U/kg), basal and bolus insulin rates, and HbA1c values of the children, obtained from medical records, were compared during the first year of the follow-up. Results: The mean age of diagnosis of children with T1DM was 2.01 +/- 1.28 years in the CSII group and 3.11 +/- 1.49 years in the MDI group. While HbA1c values measured in the first year showed a significant decrease in both treatment groups, first year HbA1c was significantly lower in the CSII group compared to the MDI group (p=0.04). Mean total daily insulin requirement for first year was 0.61 +/- 0.10 U/kg in the CSII group, and 0.82 +/- 0.18 U/kg in MDI (p=0.007). Conclusion: in children under the age of 5 with T1DM, using CSII as initial therapy provided better metabolic control with a lower daily insulin dose than MDI regimen even in the first year of the treatment. Studies with longer duration and more participants are needed.

Systemic capillary leak syndrome (ISCLS) is a rare disease characterized by unexplained reversible capillary hyperpermeability followed by hypoperfusion, hemoconcentration, and either hypoalbuminemia or total hypoproteinemia. An 11-year-old boy was admitted with vomiting, generalized edema, and hyperglycemia, which was preceded by 5 days of coryzal symptoms, lethargy, and oral aft, without fever. on physical examination, he had tachycardia and hypotension, with severe generalized systemic nonitchy edema, and the laboratory tests supported the conclusion that he had severe hemoconcentration with hemoglobin: 184 g/L, hematocrit: 51.3 %, urea: 20 mmol/L, blood glucose: 11.1 mmol/L, and albumin: 19 gr/L, with normal urine analysis. on the fourth day, the patient was diagnosed with ISCLS, by ruling out other causes of shock and hypoalbuminemia. Intravenous immunoglobulin (IVIG) treatment regimen was administered on two consecutive days (day five and day six). His edema decreased on the fifth day, and the patient was deemed clinically well. There was no compartment syndrome, rhabdomyolysis, or pulmonary edema in the recovery period. However, respiratory virus panel PCR was positive for respiratory syncytial virus (RSV) and enterovirus, which were thought to be the triggering cause of ISCLS. For the differential diagnosis of diabetes, his fasting serum glucose was 13.4 mmol/L, simultaneous C-peptide was 0.44 nmol/L, and HbA1c was 64 mmol/mol, and urine ketone was positive. However, antiglutamic acid decarboxylase, anti-insulin antibody, and islet cell antibody were negative. At the last outpatient visit, 22 months after the diagnosis, his insulin dose was still 0.4 IU/kg/day and HbA1c was 40 mmol/mol, and without prophylaxis, there was no ISCLS attack.Conclusion. Early recognition of ISCLS is important for therapeutic awareness, since it is very rare in childhood and occurs usually without any prior provoking factors in healthy children. With the increase in awareness of the disease, knowledge and experiences about pediatric patients may also increase. We think that our case will contribute to the literature since there have been no pediatric diabetic patients with ISCLS reported.

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WOS: 000464326000014, Objective: The aim of this study was to evaluate the clinical and laboratory characteristics at application and during progression of Hashimoto's thyroiditis at children and adolescents. Methods: The clinical characteristics, thyroid function tests, thyroid autoantibodies, thyroid ultrasound datas and drug treatments of 83 patients with Hashimoto's thyroiditis were retrospectively evaluated. Results: Patients' mean age at time of diagnosis were determinated 11.3 +/- 3.0 years. The male to female ratio was 3.3:1, and 51.8% of patients had a family history of thyroid disease. Mean weight SDS was 0.3 +/- 1.3, mean height SDS was 0.4 +/- 2.8 and mean body mass index SDS was 0.4 +/- 1.2. The principal symptom at time of gripe was goiter, in 27.7% of patients, and 34.9% of cases were identified incidentally. At physical examination, goiter was determined in 68.7% of patients. According to the thyroid function test results, 46.8% of patients had euthyroidism, 33.7% subclinical hypothyroidism, 17.7% hypothyroidism, 2.5% hyperthyroidism and 2.5% subclinical hyperthyroidism. Anti-TPO and anti-Tg antibody levels of the group started on L-thyroxine therapy were higher than those in the untreated patients (p = 0.01 and p = 0.051, respectively). L-thyroxine was initiated in 13 (35.1%) of the 37 patients who were initially euthyroid and not receiving treatment at presentation, due to subclinical or over hypothyroidism being observed at follow-up. Conclusion: Thyroid functions of pediatric patients with Hashimoto's thyroiditis should be followed up at regular intervals, even if they are initially euthyroid, since hypothyroidism may develop in a significant number of cases in the follow-up period.

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WOS: 000412595402197

WOS: 000392950600010, Laron Syndrome is defined as primary growth hormone resistance or insensitivity. Our aim is to discuss the clinical, laboratory findings and growth hormone receptor gene mutation analysis of the Laron Syndrome cases. 5 patients'(two girls, 3 boys) pretreatment height standard deviation score (SDS), annual growth rates, growth hormone, and IGF-1, IGFBP3 levels, age at initial treatment age, and also the height SDS, and annual growth rates, at first, second, and third years of the treatment, the doses of the targeted drugs which can be used were evaluated to find the effectiveness of the treatment. Growth hormone receptor gene mutations were evaluated. The mean age was 3.0+/-2.7 years, height SDS was -5.06+/-0.7 and target height SDS was -0.72+/-0.95. Pretreatment annual growth rate was 3.5+/-1.7 cm (1.8-6.0). Baseline growth hormone levels were over 40 pg/ml in all patients. Mean baseline IGF, mean IGF response to IGF generation test values were 9.7+/-9.9 ng/ml, and 10.7+/-9.8 ng/ml, respectively. Due to the difficulties to get the recombinant IGF treatmen, we could start the therapy at the mean age of 4.06+/-2.6 years. Usually the doses of the drugs used per year were under the targeted doses for the patients. The average annual growth rates were 3.73 cm/year, 4,24 cm/year, 3,55 cm/year, at 1st, second and third years, respectivelly. Growth hormone receptor gene analysis revealed homozygote missense c. 1630 A>C(p. I544L) mutation in one patient and; c. 1419 C>T(p. S473S) polymorphism in two siblings and c. 1681 C>A(p. P561T) homozygous mutation in one patient, c. 629 T>G(p. V210G) ve c. 1567 A>C(p. I526L) compound heterozygous mutation in one patient. As a result, it has been demonstrated that cases with Laron syndrome patients do not give adequate clinical response to recombinant IGF treatment.

WOS: 000384166801041

WOS: 000384166801177

Çalışmada 24 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n = 75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7 +/- 2.4 years. During the first 3-years of treatment (n = 91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p > 0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year Pill was higher. However, higher treatment doses of phosphate and calcitriol were Found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.

WOS: 000360842500004, PubMed: 26831551, Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).

WOS: 000351307200005, PubMed ID: 25800473, Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.