Bone mineral density and growth in children with coeliac disease on a gluten free-diet.

Background/aim: To evaluate changes in growth and bone metabolism during consumption of a gluten-free diet (GFD) in children with coeliac disease (CD).

Materials And Methods: Thirty-seven children with CD (mean age of 8.8 ± 4.

Gonadotropin-Releasing Hormone Analogue Treatment in Females with Moderately Early Puberty: No Effect on Final Height.

Objective: To investigate the effects of treatment with gonadotropin-releasing hormone analog (GnRHa) on final height in girls who experienced moderately early puberty with symptoms beginning at 7-8.5 years of age.

Methods: Female cases diagnosed with moderately early puberty which had started between ages 7 to 8.

Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.

Objective: The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the mutation detection technique and inclusion criteria. We present phenotypic and genotypic data on 38 Turkish patients with ISS and the distinctive features of 1 patient with a SHOX deletion.

Methods: Microsatellite markers (MSMs) DXYS10092 (GA repeats) and DXYS10093 (CT repeats) were used to select patients for fluorescent in situ hybridisation (FISH) analysis and to screen for deletions in the SHOX gene.

Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.

Aim: Androgen receptor (AR) gene mutations are the leading cause of 46,XY disorders of sex development (DSD) and are associated with varying degrees of androgen insensitivity. The aim of this study is to investigate AR gene mutations in 46,XY DSD patients with normal testosterone secretion, either normal or high testosterone/dihydrotestosterone (T/DHT) ratio and normal SRD5A2 gene analysis, collectively, suggestive of androgen insensitivity syndrome (AIS).

Methods: We direct sequenced all eight exons of the AR gene in 21 index patients with varying degrees of undervirilization.

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.

To investigate the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey. Seventy-six patients with CPHD were included in this study. Based on clinical, hormonal, and neuro-radiological data, relevant transcription factor genes were evaluated by Sanger sequencing and multiplex ligation-dependent probe amplification.

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

Study Objective: The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort.

Participants: The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD.

Results: Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.

Gastric carcinoid tumor in a 14-year old girl.

Gastric carcinoid tumors (GCT) are rare lesions that constitute 2.6-8.7% of all gastrointestinal carcinoids, mostly affect middle-aged females but the incidence in children is unknown.

The evaluation of thyroid carcinoma in childhood and concomitance of autoimmune thyroid disorders.

Autoimmune thyroiditis has been suggested as a precancerous condition in some adult studies, but there is still controversy. The importance of autoimmune thyroiditis in childhood thyroid cancer is not yet completely clear. We aimed to evaluate in this study the characteristics of childhood thyroid cancer in patients particularly in terms of coexisting factors including autoimmune thyroid disorders (ATD).

Rare childhood tumors in a Turkish pediatric oncology center.

Background: It has been estimated that rare tumor rate is about 15% of all childhood cancer in United States. According to Turkish Pediatric Oncology Group (TPOG) datas, 8889 children were diagnosed between 2002 and 2008 in our country and 3.7% of them were diagnosed as rare tumors.

Preperitoneal fat tissue may be associated with arterial stiffness in obese adolescents.

Vascular aging is a chronic process, and many negative effects of obesity in this process have been well defined. We assessed arterial stiffness in obese adolescents and evaluated the relationship between intra-abdominal fat distribution and arterial stiffness. Arterial stiffness parameters and pulse wave velocity (PWV) were evaluated in 61 obese adolescents and 58 healthy controls.

A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.

Background: Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. In cases exhibiting this mutation, the phenotype is heterogeneous, and it may vary within a spectrum ranging from complete female appearance to an infertile male. Virilization observed in some cases in the pubertal age group may lead to diagnostic difficulties.

Adherence to growth hormone therapy: results of a multicenter study.

Objective: To evaluate the adherence to growth hormone (GH) therapy and identify the influencing factors and outcomes in children.

Methods: A total of 217 GH-naïve patients in 6 pediatric endocrinology clinics were enrolled in the study. Structured questionnaires were filled out and patients were evaluated at the initiation and 3rd, 6th, and 12th months of therapy.

Pathophysiology of critical illness hyperglycemia in children.

Causes of hyperglycemia in critically ill non-diabetic children may differ from those in adults. The objective of this study was to investigate the pathogenesis of critical illness hyperglycemia (CIH) in terms of insulin resistance and β-cell dysfunction. Critically ill children with blood glucose (BG) levels of >150 mg/dL (8.

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.

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clinical diagnostic testing from analysis of fewer than ten genes per phenotype to more than 100. Noncoding mutations have been less extensively studied despite evidence from mRNA analysis for the existence of deep intronic mutations in >20 genes.

Relationships between osteocalcin, glucose metabolism, and adiponectin in obese children: Is there crosstalk between bone tissue and glucose metabolism?

Objective: Recently, scientific interest has focused on the association between osteocalcin, which originates from the skeletal system, and glucose metabolism. Although the association between lipid metabolism, adiponectin, and metabolic syndrome is well known, that between obesity, insulin resistance, and osteocalcin have not been clarified yet in children. The aim of this study was to assess the prevalence of insulin resistance in obese children and adolescents, as well as to investigate the effects of adiponectin and osteocalcin on the development of metabolic syndrome and insulin resistance.

The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?

Unlabelled: Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of study is to evaluate the characteristics of 45,X/46,XY patients and questioning of their place within the DSD categorization. The clinical findings of 11 patients with 45,X/46,XY mosaicism are described including the presentation, gonadal morphology, genital anatomy, and the hormone levels among 285 patients with DSD evaluated.

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.

Synchronous occurrence of papillary carcinoma in the thyroid gland and thyroglossal duct in an adolescent with congenital hypothyroidism.

Thyroid carcinoma (TC) combined with congenital hypothyroidism is rare. The synchronous occurrence of these two conditions is even rarer. We describe a patient with congenital hypothyroidism in whom hyperthyroglobulinemia and nodules developed despite adequate replacement therapy.

Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant.

Neonatal diabetes mellitus (NDM) is a rare condition that can be either transient or permanent. K(ATP) channel (Kir6.2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM.

Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.

Background: Recessive mutations in ABCC8/KCNJ11 of beta-cell K(ATP) channel generally cause severe medically unresponsive hyperinsulinemic hypoglycemia (HH). Rarer dominant mutations in these genes have been described that mostly cause milder, medically responsive congenital hyperinsulinism. Rarer dominant mutations in these genes have been described that mostly cause milder, medically responsive congenital hyperinsulinism.

Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V2811 mutation in patients with premature pubarche.

We aimed to determine the prevalence and clinical characteristics of non-classical congenital adrenal hyperplasia (NCCAH) with V281L mutation in patients with premature pubarche. An adrenocorticotrophic hormone (ACTH) stimulation test was performed in 14 of the 159 patients with premature pubarche (PP). Patients whose stimulated 17alpha-hydroxyprogesterone (17-OHP) level on the ACTH test was > or =10 ng/mL underwent a mutational analysis of the CYP21 gene.

The endocrine spectrum of intracranial cysts in childhood and review of the literature.

Intracranial cysts (ICC) may cause a wide spectrum of endocrinological disorders. We evaluated 27 patients who were diagnosed with ICC during investigation for neuroendocrine dysfunctions and reviewed the relevant literature. The types of ICC in the patients were arachnoid cysts (n = 13); Rathke cleft cysts (n = 7); pineal cysts (n = 5); an ependymal cyst (n = 1) and a cavum septum pellucidum cyst (n = 1).

Primary adrenal insufficiency in a child after busulfan and cyclophosphamide-based conditioning for hematopoietic stem cell transplantation.

High rates of skeletal complications, growth disturbances, thyroid and gonadal dysfunction have been described in children undergoing stem cell transplantation. Although secondary adrenal insufficiency has been diagnosed, no primary adrenal insufficiency has been reported after busulfan and cyclophosphamide (Bu/Cy)-based conditioning regimens for stem cell transplantation in children. A 9-year-old girl with myelodysplastic syndrome was treated with stem cell transplantation of allogeneic origin.

Efficiency of fluid treatments with different sodium concentration in children with type 1 diabetic ketoacidosis.

Objective: The management of children with diabetic ketoacidosis (DKA) continues to be a controversial issue with regard to amount of intravenous fluid to be given, rate of delivery of fluid, and type of fluid to be used. We aimed to analyze the results obtained by administration of rehydration fluids of two different sodium (Na) concentrations (75 mEq/L vs. 100 mEq/L) in the treatment of children with DKA.