Molecular genetic etiology by whole exome sequence analysis in cases with familial type 1 diabetes mellitus without HLA haplotype predisposition or incomplete predisposition.

Objectives: Familial transmission is observed in approximately 10% of cases with type 1 diabetes mellitus (T1DM). The most important gene determining susceptibility is the human leukocyte antigen complex (HLA) located on chromosome 6. More than 50 susceptible loci are associated with T1DM susceptibility have been identified in genes other than HLA.

Neonatal Hyperglycemia, which threshold value, diagnostic approach and treatment?: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report.

Hyperglycemia has become an important risk factor for mortality and morbidity in the neonatal period, especially with increased survival rates of very low birth weight neonates. Hyperglycemia in the neonatal period develops as a result of various mechanisms including iatrogenic causes, inability to supress hepatic glucose production, insulin resistance or glucose intolerance, specifically in preterm neonates. Initiation of parenteral or enteral feeding in the early period in preterm babies increases insulin production and sensitivity.

Management of Childhood Thyroid Nodules: Surgical and Endocrinological Findings in a Large Group of Cases.

Objective: The management of childhood thyroid nodules is still a big challenge for clinicians. In this study, we aimed to present our surgical and endocrinological experience in more than one hundred pediatric cases.

Methods: A retrospective analysis of patients admitted with a thyroid nodule between 2006 and 2014 was performed.

Increased deficits in emotion recognition and regulation in children and adolescents with exogenous obesity.

Objectives: In this study we aimed to evaluate emotion recognition and emotion regulation skills of children with exogenous obesity between the ages of 11 and 18 years and compare them with healthy controls.

Methods: The Schedule for Affective Disorders and Schizophrenia for School Aged Children was used for psychiatric evaluations. Emotion recognition skills were evaluated using Faces Test and Reading the Mind in the Eyes Test.

Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study.

Aims: To evaluate the management strategies, glycemic control and complications of pediatric type 1 diabetes mellitus (T1DM) patients in Turkey.

Methods: Study included 498 patients with T1DM between the ages 1-18. Data provided from patients' hospital files were recorded on standard case report forms by applicant clinicians within the 3months of data collection period between October 2012 and July 2013.

Difficulties experienced by caregivers of patients diagnosed with osteogenesisimperfecta (OI): example of a hospital.

Objective: To identify the difficulties experienced by medical caregivers of inpatients diagnosed with osteogenesisimperfecta.

Methods: The descriptive, cross-sectional study was conducted at a university hospital in western Turkey from April to May, 2012, and comprised relatives providing care to patients who were diagnosed with osteogenesisimperfecta and were being treated in the paediatric endocrinology unit. Data was collected via face-to-face interviews with patient relatives.

Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency.

Combined pituitary hormone deficiency (CPHD) refers to a rare heterogeneous group of conditions in which there is a deficiency in at least two anterior pituitary hormones. Patients with POU1F1 mutations show a combined pituitary deficiency with low or absent levels of growth hormone, prolactin, and thyroid-stimulating hormone. In this study, a 7-month-old girl with a CPHD is presented.

Diabetes care, glycemic control, complications, and concomitant autoimmune diseases in children with type 1 diabetes in Turkey: a multicenter study.

Objective: 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 exon 3-deleted/full-length growth hormone receptor polymorphism and response to growth hormone therapy in growth hormone deficiency and Turner syndrome: a multicenter study.

Background/aim: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner's syndrome (TS) and the distribution of GHR exon 3 isoforms.

Clinical course of Hashimoto's thyroiditis and effects of levothyroxine therapy on the clinical course of the disease in children and adolescents.

Objective: The aim of this study was to evaluate the clinical course of Hashimoto's thyroiditis (HT) in children and adolescents and the effects of levothyroxine therapy on the clinical course and laboratory findings.

Methods: The clinical and laboratory data of 101 patients with HT at presentation and during a three-year follow-up period were retrospectively evaluated using patient records.

Results: The mean age of the patients at the time of diagnosis was 12.

Effects of pesticides used in agriculture on the development of precocious puberty.

The present study aims to evaluate the effects of pesticides on premature breast development. Forty-five girls (group 1) with premature breast development living in the Menderes region, where greenhouse cultivation is the main income, 16 girls (group 2) living in Izmir city with early puberty, and 33 girls (group 3) who had no signs of puberty were included in the study. Endosulphan 1, endosulphan 2, endosulphan sulphate, methoxychlor, vinclozolin, 4,4-dichlorodiphenyldichlorethylene (DDE), 4,-dichlorodiphenyltrichloroethane (DDT), and 2,4-DDT were evaluated in the serum and adipose tissues of the groups by using a gas chromatography-mass spectrometry method.

Ghrelin levels in children with constitutional delay of growth and puberty.

Objective: In this study, we aimed to show the role of ghrelin in growth delay in children with constitutional delay of growth and puberty (CDGP).

Methods: Thirty male children with CDGP constituted the study group and fifteen healthy children with normal growth of similar ages-the control group. In both groups, fasting and postprandial plasma ghrelin levels, serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) levels were determined.

Primary hyperparathyroidism in a young adult presenting with severe hypertension.

Hypertension is a significant cause of morbidity and mortality in childhood. Endocrine-related hypertension is rare in children. Hypercalcmia due to hyperparathyroidism is a rare cause of endocrine-related hypertension in childhood.

Salla disease in Turkish children: severe and conventional type.

Sialic acid storage disorder, known as Salla disease, is a rare autosomal recessive lysosomal disorder produced by a defect of a proton-driven carrier that is responsible for the efflux of sialic acid from the lysosomal compartment. We report two patients with Salla disease: a two-year-old girl, presented with hypotonia, inability to speak and walk, bilateral optic atrophies, defective myelination, cerebellar atrophy, and thinning of the corpus callosum on magnetic resonance imaging (MRI), who was classified as intermediate severe Salla disease; and a four-year-old girl, presented with relatively late-onset, slight hypotonia, and delayed language and mobility development, and supported by relatively protected MRI findings, who was classified as conventional Salla disease. Diagnosis of Salla disease was confirmed by accumulation of sialic acid in fibroblast culture: 15.

An association among iron, copper, zinc, and selenium, and antioxidative status in dyslipidemic pediatric patients with glycogen storage disease types IA and III.

Dyslipidemia in patients with glycogen storage disease types Ia (GSD Ia) and III (GSD III) does not lead to premature atherosclerosis. The aim of this study was to investigate the association among serum copper (Cu), zinc (Zn), iron (Fe), and selenium (Se) concentrations, and their carrier proteins: ceruloplasmin, albumin, and related antioxidant enzyme activities [superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), paraoxonase (PON), and arylesterase (ARYL)] in 20 GSD Ia and 14 III patients compared to age and sex matched 20 healthy subjects. Erythrocyte oxidative stress was measured by erythrocyte thiobarbituric acid reactive substances (eTBARSs).

Low density lipoprotein apheresis in pediatric patients with homozygous familial hypercholesterolemia.

The aim of the present study is to clarify the low density lipoprotein apheresis procedure for pediatric patients with homozygous familial hypercholesterolemia (FH) in terms of efficacy, adverse effects and difficulties. The follow-up was carried out using an open, prospective uncontrolled clinical design. Data were collected from 10 patients (with an average age of 8.

Many admissions to the emergency departments with recurrent syncope attacks and seizures in an adolescent boy.

A 16-year-old boy presented with tonic-clonic seizure after he woke up early in the morning. He had experienced 5-6 episodes of syncope, fatigue, weakness and somnolence one year before admission. On admission, physical examination was normal and first line laboratory tests were normal except capillary blood glucose which was 16 mg/dl.

A cross-sectional, mono-centric pilot study of insulin resistance in enzyme replacement therapy patients with Gaucher type I without overweight.

Insulin resistance have been demonstrated in untreated patients with Gaucher type I disease. It was implied in overweight enzyme replacement therapy (ERT) treated patients with Gaucher type I disease. In present study we investigate whether insulin resistance is presented in fourteen ERT treated patients with Gaucher type I disease and without overweight in comparison to normal subjects.

A randomized clinical trial comparing breakfast and bedtime administration of insulin glargine in children and adolescents with type 1 diabetes.

Background: Insulin glargine provides effective glycemic control when administered at bedtime in adults.

Objective: This study aims to investigate whether insulin glargine is equally effective if administered in the morning or at bedtime in combination with preprandial anologue insulin.

Methods: Twenty-eight patients that have been treated with an intensified insulin regimen for at least one year were randomized to insulin glargine injection at breakfast (06:00-09:00) (12 patients) or bedtime (21:00-24:00) (16 patients), plus meal-time anologue insulin in the two groups.