Hyperinsulinaemic hypoglycaemia (HH) is characterized by unregulated insulin secretion from pancreatic ß-cells. Untreated hypoglycaemia in infants can lead to seizures, developmental delay, and subsequent permanent brain injury. Early identification and meticulous managementof these patients is vital to prevent neurological insult. Mutations in eight different genes (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2) have been identified to date in patients with congenital forms of hyperinsulinism (CHI). The most severe forms of CHI are due to mutations in ABCC8 and KCJN11, which encode the two components of pancreatic ß-cell ATP-sensitive potassium channel. Recent advancement in understanding the genetic aetiology, histological characterisation into focal and diffuse variety combined with improved imaging (such as fluorine 18 L-3, 4-dihydroxyphenylalanine positron emission tomography 18F-DOPA-PET scanning) and laparoscopic surgical techniques have greatly improved management. In adults, HH can be due to an insulinoma, pancreatogenous hypoglycaemic syndrome, post gastric-bypass surgery for morbid obesity as well as to mutations in insulin receptor gene. This review provides an overview of the molecular basis of CHI and outlines the clinical presentation, diagnostic criteria, and management of these patients.

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.
Methods: A total of 150 obese nondiabetic children and adolescents, aged between 5 and 18 years, were included in the study. Serum adiponectin, osteocalcin and insulin levels were measured, and the association of the components of metabolic syndrome with adiponectin and osteocalcin levels was investigated. Insulin resistance was evaluated by Homeostasis model assessment insulin resistance (HOMA-IR).
Results: Metabolic syndrome was identified in 28% of the cases, all older than 10 years of age. No significant association was identified between insulin resistance, metabolic syndrome parameters, and osteocalcin levels. Adiponectin levels were significantly low in cases with metabolic syndrome, hyperinsulinemia, and in those with dyslipidemia. No significant association was found between adiponectin and osteocalcin levels.
Conclusions: We failed to show the effect of osteocalcin on insulin resistance in obese children and adolescents. This finding may be due to absence of hypergycemic blood glucose levels in our cases.

Objective: The aim of this study was to determine the frequency of HLA DR-DQ haplotypes in children with type 1 diabetes mellitus (T1DM) in the Southeast Region of Turkey.
Methods: Eighty children and adolescents with T1DM and eighty control subjects participated in the study. HLA-DR, DQ was typed using polymerase chain reaction and sequence-specific priming technique.
Results: HLA DRB1*03 allele was significantly more common in patients than in control subjects. HLA DRB1*11, HLA DRB1*13 and HLA DRB1*14 allele frequencies were significantly lower in patients than in controls. DQB1*02 allele was more common in patients, whereas DQB1*03 allele was more frequent in control subjects. HLA DRB1*03-DQB1*02 haplotype was more frequently observed among patients.
Conclusion: These results confirm the similar potential trends in the frequency distribution of HLA susceptibility genes with T1DM previously observed in Turkey and in other Caucasian populations.

Objective: Congenital hypothyroidism (CH) increases the prevalence of kidney and urogenital malformations. There are limited studies considering different aspects of kidney function in well-controlled CH patients. We evaluated some features of kidney function in euthyroid children with CH who have been receiving thyroxine hormone since early life.
Methods: This cross-sectional study was conducted in Isfahan, Iran, on 74 children aged 2-15 years old (36 CH patients and 38 healthy children). Inclusion criteria for CH patients were euthyroidism at the time of the survey and initiation of replacement therapy during the early neonatal period. Kidney ultrasound evaluation was performed in all participants. Serum biochemistry included urea, creatinine, sodium (Na), potassium (K), magnesium, calcium, and cystatin C levels. Urine electrolytes, fraction excretion (FE) of electrolytes and microalbumin, and glomerular filtration rate (GFR) were also determined.
Results: The male/female ratio was 0.8/1 and 1.5/1 in the patient and control groups, respectively. Mean age and height did not differ significantly between the two groups. Ultrasound evaluation of the kidney revealed that the anteroposterior diameter of the right kidney was significantly higher in CH patients as compared to healthy subjects. No significant difference was observed between GFRs in patients with CH and healthy children. The mean values for FENa and FEK were significantly higher in the patient group.
Conclusions: Increased FENa and FEK may be a manifestation of impaired tubular maturation in CH. More longitudinal studies are needed to evaluate kidney function in CH patients.

Objective: Training teachers and education professionals on diabetes is crucial for full-time monitoring of diabetic children in schools. The objective of this study was to assess the knowledge on diabetes in a group of school teachers in Turkey.
Methods: Between November 2010 and November 2011, 1054 teachers from three regions of Ankara were given a questionnaire to assess their knowledge on diabetes. The mean age of the group (27% males, 73% females) was 38.8±8 years. 61.7% of the participants were class teachers, 23.3% were school counselors, and the rest were physical education teachers and administrators.
Results: A fair percentage (47.6%) of the participants had a moderate knowledge level on diabetes and 32.4% expressed a lower level of knowledge. A large proportion (94%) gave an accurate definition of diabetes. Of the total group of 1054 teachers, 625 were aware that blood glucose level might decrease in diabetic children during follow-up. Also, 75% believed that diabetic children were eligible for physical education classes. 52.8% of these teachers had no diabetic child in their classes and teachers with a diabetic patient in their family had better knowledge of diabetes compared to their counterparts.
Conclusions: Our study results indicate that school teachers have limited knowledge on diabetes. We believe that their knowledge levels can be improved by widespread training programs.

Objective: The purpose of this study was to investigate the prevalence of and the risk factors associated with obesity among adolescents in Ankara, Turkey.
Methods: The study was conducted in 26 schools in Ankara during the time period from September 2010 to March 2011. A total of 8848 adolescents aged 11-18 years were chosen using a population-based stratified cluster sampling method. Body mass index (BMI) of the participants was compared with the BMI references for Turkish children and adolescents to estimate the prevalence of overweight and obesity. A standardized questionnaire aiming to determine the sociodemographic characteristics, computer use, television (TV) watching, physical activity, and presence of obesity in the family was applied to the study group.
Results: The results showed that the overall prevalence of obesity among adolescents was 7.7% (8.4 % for females and 7.0% for males). It was observed that BMI increased as computer use increased. A greater proportion of the overweight and obese adolescents watched TV and use computer for more than 2 hours/day as compared to their normal-weight counterparts. The normal-weight subjects were found to show a higher participation in regular physical activity. Obesity prevalence among the families of obese adolescents was 56.5%.
Conclusions: The prevalence of adolescent obesity in Ankara, Turkey is lower as compared to many European countries and to the United States. Computer use, watching TV, physical activity and family factors are important risk factors for obesity.

Objective: The aim of this study was to evaluate the girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty due to early onset of breast development or pubarche.
Methods: Within the study period, we evaluated 289 subjects referred for concerns about early onset of puberty. History, anthropometric data, bone age (BA), hormones including luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, and dehydroepiandrosterone sulfate, as well as pelvic ultrasonography (USG)-derived ovarian and uterine volumes were analyzed.
Results: Of the 289 girls referred for early onset of pubertal development, 64 (22.1%) had false alarms for puberty. Of the remaining 225 girls, 41 (18.2%) were diagnosed as premature pubarche, 56 (24.9%) as premature thelarche (PT), and 128 (56.9%) as precocious puberty (PP). Girls with early-onset puberty had more advanced BA, greater uterine and ovarian volumes, and also higher LH values than subjects with PP and PT. Nearly half of these girls were 7-8 years of age. Body mass index (BMI) standard deviation score was significantly higher in the PP cases.
Conclusions: There is a need for primary care physicians to be more knowledgeable on puberty and on puberty problems. There seems to be a preponderance of PP in 7-8-year-old children. Increased BMI may have a role in the trend towards earlier onset of puberty.

A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant’s weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m2/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient’s electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative SRY.

Endoscopic third ventriculostomy (ETV) has become the procedure of choice for the treatment of obstructive hydrocephalus in children and adults. Endocrinological complications of ETV in children are rare. Diabetes insipidus (DI) is the most common and accounts for only 0.5% of complications from ETV. The majority of documented cases are transient. To date, there are no documented cases of multiple pituitary hormone deficiencies. We present here a 6-year-old girl with growth hormone deficiency and permanent DI which developed as a complication of ETV. This patient is unique in both demonstrating multiple pituitary hormone deficiencies and the classical triphasic response of DI after ETV. We postulate that these complications were caused by compression of the pituitary stalk and hypothalamic injury during the procedure. We compare our case presentation to experimental studies conducted in rats.

Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are well-known causes of skeletal syndromes. FGFR3 is a negative regulator of bone growth and all mutations in FGFR3 are gain-of-function mutations that lead to skeletal dysplasias. We report a child who presented with short stature, a relatively long trunk, short legs, short arm span, radiographic evidence of HCP and mild mental retardation. Genetic analysis revealed a heterozygous 1620C>G (Asn540Lys) mutation in FGFR3. To our knowledge, ours is the first case report of HCP with a heterozygous 1620C>G (Asn540Lys) mutation in Turkey.

49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for genetic testing at 14 years of age due to facial dysmorphism and hypergonadotropic hypogonadism. He had coarse facial features, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome. He also had agenesis of the right kidney, hydronephrosis of the left kidney with hydroureter which is not a known association of 49,XXXXY syndrome. The patient was the offspring of a mother with gestational diabetes. There is a strong correlation between maternal diabetes and congenital anomalies, especially renal and cardiovascular anomalies. Additionally, it has been noted that gestational diabetes increases the incidence of chromosomal aneuploidies. The teratogenic effects of maternal diabetes during embryogenesis may be the causative factor for the final phenotype of 49,XXXXY syndrome and renal agenesis.