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siklar, zeynep/0000-0003-0921-2694; ABALI, SAYGIN/0000-0001-6552-2801; Turan, Serap/0000-0002-5172-5402; UCAKTURK, Seyit Ahmet/0000-0001-8666-4454; yesiltepe mutlu, gul/0000-0003-3919-7763; Demir, Korcan/0000-0002-8334-2422; Hatun, Sukru/0000-0003-1633-9570 WOS: 000487006600007 PubMed: 31099079 Aims To describe the baseline clinical and laboratory findings and treatment modalities of 367 children and adolescents diagnosed with Type 2 diabetes in various paediatric endocrinology centres in Turkey. Methods A standard questionnaire regarding clinical and laboratory characteristics at onset was uploaded to an online national database system. Data for 367 children (aged 6-18 years) newly diagnosed with Type 2 diabetes at 37 different paediatric endocrinology centres were analysed. Results After exclusion of the children with a BMI Z-score < 1 SD, those with genetic syndromes associated with Type 2 diabetes, and those whose C-peptide and/or insulin levels were not available, 227 cases were included in the study. Mean age was 13.8 +/- 2.2 (range 6.5-17.8) years, with female preponderance (68%). Family history of Type 2 diabetes was positive in 86% of the children. The mean BMI was 31.3 +/- 6.5 kg/m(2) (range 18.7-61) and BMI Z-score was 2.4 +/- 0.8 (range 1-5). More than half (57%) of the children were identified by an opportunistic diabetes screening due to existing risk markers without typical symptoms of diabetes. Only 13% (n = 29) were treated solely by lifestyle modification, while 40.5% (n = 92) were treated with metformin, 13% (n = 30) were treated with insulin, and 33.5% (n = 76) were treated with a combination of insulin and metformin initially. Mean HbA(1C) levels of the insulin and combination of insulin and metformin groups were 98 (11.1%) and 102 mmol/mol (11.5%), respectively, and also were significantly higher than the lifestyle modification only and metformin groups mean HbA(1C) levels (70(8.6%) and 67 mmol/mol (8.3%), respectively). Conclusions An opportunistic screening of children who are at high risk of Type 2 diabetes is essential, as our data showed that > 50% of the children were asymptomatic at diagnosis. The other important result of our study was the high rate of exclusion from the initial registration (38%), suggesting that accurate diagnosis of Type 2 diabetes in youth is still problematic, even for paediatric endocrinologists.

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.

Purpose: Although its use is increasing in children, there are no data about pump use in Turkish children with diabetes. The aim of this study was to investigate the outcome measures of insulin pump use in diabetic Turkish children. Materials and Methods: Ten children (age; 14.7±2.6 years, pump therapy duration; 3-24 months) were prospectively studied. Main outcome measures were compared with those of the 12 months prior to pump therapy. Results: Although statistically insignificant, HbA1c tended to be lower compared to the pre-pump period. Body mass index Z scores remained similar (0.45±0.76 vs. 0.54±0.53 kg/m2, p>0.05). Insulin doses decreased (1.1±0.2 vs. 0.9±0.1 U/kg/day, p0.05). Conclusion: The consistency of the improvements in main outcome measures and their maintenance over time in our study suggest that pump therapy is safe and effective in diabetic Turkish children.

Dubowitz syndrome: a cholesterol metabolism disorder?: Dubowitz sydrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Here we describe a male Turkish patient who has typical and less common findings of DS with additionally persistently low serum lipid levels and an arachnoid cyst. The present patient is the second case of DS with persistently low cholesterol levels.

This study was planned to investigate leptin levels under different models of nutrition and their relation with anthropometric parameters in early infancy. Sixty four infants (28 exclusively breast-fed, 15 exclusively formula-fed and 21 mixed-fed), aged 4 months were included and their leptin, insulin-like growth factor-I (IGF-1), and IGF binding protein-3 (IGFBP-3) levels were measured. Leptin, IGF-1 and IGFBP-3 levels of the three groups here not statistically different (P>0.05). The results of our study questions the role of leptin as a link between nutritional pattern and adiposity-growth in early infancy.

Hyperthyrotropinaemia, in which normal levels of T4 occur in association with raised thyroid stimulating hormone (TSH), is usually picked up on neonatal screening. High TSH level can continue for a long time in some of the cases. There is no consensus concerning the follow-up or treatment plan for hyperthyrotropinaemia. In this study, results of a 4-year follow-up of 36 cases who had been medically treated are discussed. Low-dose (5 mu g/kg/day) L-thyroxin treatment was carried out in 36 cases that had 5 mU/l or higher TSH and showed exaggerated response to TRH test. Dose was decreased to 2-3 mu g/kg/day in 24 of these patients during 6 months follow-up. The drug was stopped in three cases because of the development of biochemical hyperthyroidism. Denver developmental assessment test was applied to all cases at the end of the third year. All patients showed a normal development in relation to their age. According to our results, cases with hyperthyrotropinaemia need to be followed regularly for a long time and a need for low-dose L-thyroxin treatment may exist at ages varying from patient to patient.

A new case of hairy elbows syndrome (hypertrichosiscubii): Hairy Elbows Syndrome (Hypertrichosis Cubiti; OMIM# 139600) is a rare syndrome, and characterized by the presence of long vellus hair localized on the extensor surfaces of the distal third of the arms and proximal third of the forearm bilaterally. Occasionally hypertrichosis of other body regions may accompany hairy elbows. About half of the reported patients have short stature. Aside from short stature other relatively rare abnormalities related with this syndrome were also described. Most of the reported cases were sporadic, but autosomal dominant as well as autosomal recessive inheritance patterns have also been postulated. In this report, we present a girl with Hairy Elbows syndrome who has both characteristic and uncommon findings of the syndrome. She has excessive hair on her elbows, along with short stature, microcephaly, joint hyperlaxity, thin-long-webbed neck, dysmorphic facial features and mental retardation.

Infants born to diabetic mothers have elevated cord blood leptin levels. The aim of this study was to investigate whether the situation persists at the 2(nd) postnatal day, taking the fasting and satiety states into account and the influence of fetal exposure to hyperinsulinemia, which are proven important contributing factors to plasma leptin levels. Twenty infants born to mothers with gestational diabetes (Group I) and 20 controls (Group II) were included in the study. Groups were similar for sex and anthropometric measurements. Group I had higher leptin concentrations compared to Group II in fasting and satiety states (p

Background and Objective: Leptin is produced by the human placenta besides adipose tissue and is suggested to be related to fetal growth. In order to find out whether multiple pregnancy is a factor affecting serum leptin levels, we compared neonatal serum leptin concentrations of twins and singleton newborns who were all appropriate for gestational age (AGA).

Leptin levels in children with insulin dependent diabetes mellitus. Leptin, a product of the ob gene, is a polypeptide hormone produced in adipose tissue that informs the brain about the amount of energy storage of body fat. It has very important effects on neuroendocrine functions and. energy expenditure. The aim of our study was to determine leptin levels, of children with insulin dependent diabetes mellitus.(IDDM), which is known to affect body metabolism, and to investigate the relationship between duration of the disease, insulin dosage, HbA1c levels, body mass index (BMI), serum lipids and IGF-1 levels. Sixteen patients with IDDM (chronological age 13.8 +/- 2.6 years) whose HbAlc levels were 10.2 +/- 1.9 %, BMI 21.2. +/- 2.7 kg/m(2), insulin dosage 0.9 +/- 0.4 U/kg/day and duration of the disease 6.7 +/- 2.6 years, and 12 healthy controls (13.4 +/- 2.6 years) were included in the study. Fasting plasma leptin levels were measured, by radioinummoassay method. The mean plasma leptin levels of the patient and the control groups were 19.1 +/- 7.6 ng/ml and 6.1 +/- 2.9 ng/ml, respectively, and significant difference was found between the two groups (p

Severe hypothyroidism in children is known to produce cardiac abnormalities such as asymmetric thickening or hypertrophy of the interventricular septum, smaller internal dimensions of the left ventricle, a smaller left ventricular outflow tract, and less systolic septal excursion. In this report, we present a 1.5-year-old boy who was admitted to our hospital because of growth retardation. According to the clinical and laboratory findings, congenital hypothyroidism, dilated cardiomyopathy (DCMP), atrioventricular complete heart block and secundum type atrial septal defect were diagnosed.

Autoimmune polyglandular syndrome (APS) type I is a disorder that consists of three primary diseases: hypoparathyroidism (HPT), adrenocortical insufficiency (ACI) and chronic mucocutaneous candidiasis. Several other disorders may be associated. the diagnosis of APS type I was made in a 16-year-old patient with HPT, Hashimato's thyroiditis and ACI in our department. She has been observed for more than four years for other possible endocrine and non-endocrine disorders.

In this report we present two children with cutaneous anthrax which is rarely seen in developing countries. There is usually a history of contact with animals. One of our patients did not have such a contact.