Recent census figures in Turkey show that out of a population of 76.6 million, 22.7 million (29.7%) are younger than 18 years old. The great majority (>95%) of pediatric cases of diabetes in Turkey are type 1 diabetes mellitus (T1DM). In recent years, with increase in number of pediatric endocrine centers around the country, the important issue of care for diabetic children and adolescents has been revived and major steps have been taken for improvement in pediatric care and its outreach to all diabetic children. The Childhood Diabetes Group continues its activities in cooperation with the Turkish Ministry of Health. A list of areas of interest of the Group include “School programs”, “Incidence/prevalence studies and national registry system”, “Educational guidelines for diabetes in children”, “Increasing the numbers of camps and summer schools for diabetic children”, “Organization of educational programs for the health team”, “National guidelines for transition of diabetic children to adult clinics”, “Improvement of school canteens”, “Educational spots” to improve awareness of diabetes. The activities of the Childhood Diabetes Group will be discussed in detail in this article.

Objective: In this study, we aimed to investigate the association of W64R polymorphism of the ß3-adrenergic receptor gene (ß-3AR) with childhood obesity and related pathologies.
Methods: ß-3AR gene W64R genotyping was carried out in 251 children aged 6-18 years. Of these subjects, 130 were obese (62 boys) and 121 were normal-weight (53 boys). In the obese group, fasting lipids, glucose and insulin levels were measured. Oral glucose tolerance test (OGTT) was performed in 75 of the obese patients.
Results: The frequency of W64R genotype was similar in obese and non-obese children. In obese children, relative body mass index, waist-to-hip ratio, serum lipid, glucose and insulin levels, as well as homeostasis model assessment of insulin resistance (HOMA-IR) scores were not different between Arg allele carriers (W64R and R64R) and noncarriers (W64W). In 75 obese children, OGTT results showed that Arg allele carriers had significantly higher 30-minute glucose levels (p=0.027).
Conclusion: W64R polymorphism of the ß-3AR gene is not associated with obesity and waist-to-hip ratio in Turkish children. Although there were no relationships between the genotypes and lipid, glucose/insulin levels or HOMA-IR, the presence of W64R variant seemed to have an unfavorable influence on early glucose excursion after glucose loading.

Objective: There is an increased risk of cardiovascular morbidity in children and adolescents with classical congenital adrenal hyperplasia (CAH), presumably associated with obesity, hypertension, impaired glucose tolerance and dyslipidemia. This study was designed to evaluate the metabolic and cardiovascular profile of a group of children with classical CAH from the perspective of cardiovascular risk.
Methods: Twenty-five CAH patients and 25 healthy controls were included in the study. Metabolic and anthropometric parameters were investigated and compared in these two groups.
Results: Subjects in the CAH group were shorter than the controls (p=0.001) and had higher body mass index values (p=0.033). Diastolic blood pressure (DBP) (p=0.027) and carotid intima-media thickness (CIMT) values (p=0.006) were also higher in the patient group. In 24% (n=6) of CAH patients, 24-h ambulatory BP monitoring showed arterial hypertension. CIMT was significantly higher in the hypertensive patients than in those with no hypertension (p=0.013). Twenty percent (n=5) of CAH patients had nocturnal hypertension. CIMT was significantly greater in the nocturnal hypertensive group (p=0.02). Mean systolic BP (SBP) and DBP dipping were significantly different in the CAH patients (p<0.001). CIMT correlated negatively with DBP dipping (r=-0632, p=0.037) in these patients.
Conclusion: These results provide additional evidence for the presence of subclinical cardiovascular disease in classical CAH patients and its relationship with hypertension.

Objective: Studies have demonstrated a significant relationship between maternal fructose intake and metabolic outcome in their offspring. However, there is a paucity of data about the long-term effects of fructose intake on the offspring of fructose-fed dams. Therefore, we planned a study to evaluate the long-term effects of fructose intake on the offspring of dam rats fed a high-fructose diet.
Methods: Sixteen virgin female Sprague-Dawley rats were divided into two groups. Group 1 received a regular diet and Group 2 a high-fructose diet. Both groups received their experimental diets for 8 weeks before conception. They were mated and continued to feed with their experimental diet during mating and during their pregnancy and lactation periods. After weaning, the offspring from each group were divided into two groups. Group 1A received a regular diet, Group 1B - a fructose diet, Group 2A - a regular diet and Group 2B received a fructose diet. After weaning, the offspring were anesthetized and blood samples were collected for biochemical analysis. Liver, kidney and retroperitoneal adipose tissue were harvested for histopathological examination. Primary antibodies against inducible nitric oxide synthase (iNOS) and cyclooxygenase-2 (COX-2) were determined as early inflammation markers.
Results: After weaning, while daily water consumption was found to be significantly higher in Groups 2B and 1B (p<0.01), daily laboratory chow consumption was significantly lower in Groups 1A and 2A (p<0.01). Body weight was significantly higher in Groups 1B and 2B (p<0.01). Serum glucose, triglyceride, low-density lipoprotein cholesterol and very low-density lipoprotein cholesterol levels were found to be increased and high-density lipoprotein cholesterol levels decreased in Group 2B (p<0.05). The intensities of iNOS staining in the retroperitoneal adipose tissue, COX-2 staining in the liver and both iNOS and COX-2 staining in the kidney were higher in Group 2B (p<0.05).
Conclusion: Based on our findings, we believe that the offspring of dams which received a high fructose intake during their pregestation, gestation and lactation periods are at risk of developing metabolic syndrome in their later life only if they continue to receive a high intake of fructose. We therefore propose that the risk of developing metabolic syndrome can probably be reduced by modifying the diet of the offspring after weaning.

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.

Objective: Approaches to diagnosis and treatment of growth hormone deficiency (GHD) in children vary among countries and even among centers in the same country. This survey, aiming to facilitate the process of preparing the new consensus on GHD by the Turkish Pediatric Endocrinology and Diabetes Society, was designed to evaluate the current practices in diagnosis and treatment of GHD in different centers in Turkey.
Methods: A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers.
Results: Twenty-four centers returned the questionnaire. The most frequently used GH stimulation test was L-dopa, followed by clonidine. Eighteen centers used a GH cut-off value of 10 ng/mL for the diagnosis of GHD; this value was 7 ng/mL in 4 centers and 5 ng/mL in 2 centers. The most frequently used assay was immunochemiluminescence for determination of GH, insulin-like growth factor-1 and insulin-like growth factor binding protein-3 concentrations. Sex steroid priming in both sexes was used by 19 centers. The most frequently used starting dose of recombinant human GH (rhGH) in prepubertal children was 0.025-0.030 mg/kg/day and 0.030-0.035 mg/kg/day in pubertal children. Growth velocity was used in the evaluation for growth response to rhGH therapy in all centers. Anthropometric measurements of patients every 3-6 months, fasting blood glucose, bone age and thyroid panel evaluation were used by all centers at follow-up. Main indications for cessation of therapy were decreased height velocity and advanced bone age. Fourteen centers used combined treatment (rhGH and gonadotropin-releasing analogues) to increase final height.
Conclusion: Although conformity was found among centers in Turkey in current practice, it is very important to update guideline statements and to modify, if needed, the approach to GHD over time in accordance with new evidence-based clinical studies.

Objective: Idiopathic premature adrenarche (PA) refers to presence of androgenic signs before the age of eight years in girls in the absence of thelarche. In children with PA, increased adrenal androgens lead to changes in body composition and transient growth acceleration. Although the association between PA and some components of the metabolic syndrome is well known, body composition has not been extensively studied in these patients.
Methods: We examined 47 girls with PA with a median age of 7.39 years and 57 healthy controls with a median age of 7.11 years. For PA group, the inclusion criteria were appearance of pubic/axillary hair before 8 years of age, absence of findings of central puberty and absence of use of any medication. Patients with steroidogenic enzyme defects and virilizing tumors were excluded. Height, body weight, waist and hip circumference were measured. The bioelectrical impedance method was used for body composition analysis.
Results: In the PA group, both body weight standard deviation score (SDS) and height SDS were significantly higher than in the controls (p<0.001 for both). While total body fat percentage values were significantly higher in the PA group than in the controls (median 22.8% vs. 19.95%, p=0.049), fat-free mass (FFM) and total muscle mass percentages were significantly lower than in the controls (median 76.8% vs. 79.9%, p=0.024 and 72.6% vs. 75.7%, p=0.018, respectively).
Conclusion: Our findings revealed that girls with PA have higher body weight and height for age values. They also show significant changes in body composition such as an increase in total body fat percentage with a concomitant decrease in the percentages of FFM, muscle mass and total body water.

Objective: To evaluate the epidemiologic, clinical and laboratory characteristics of a group of children with type 1 diabetes mellitus (T1DM) living in a Turkish city.
Methods: The records of 395 (boys/girls: 199/196) children with newly diagnosed T1DM hospitalized in the years 1985-2004 were evaluated retrospectively. The data were assessed by gender and age subgroups (?5, 6-10 and ?11 years).
Results: Mean age of children at diagnosis was 8.1±4.1 years. At T1DM onset, the number of children ?5, between 6-10 and ?11 years old was 110 (27.9%), 147 (37.2%) and 138 (34.9%), respectively. The patients were mostly diagnosed at ages 6-8 years (24.1%), followed by cases aged 3-5 years (22.0%). Polyuria and polydipsia were the most common symptoms (94.7%). Mean duration of symptoms was 21.5±18.6 days. Although the patients mostly presented in autumn (30.7%), no season-related significant differences were found. The frequency of ketoacidosis was relatively high (48.5%). When compared to boys, the girls experienced higher rates of ketoacidosis (55.1% vs. 41.7%, p=0.042); had a higher frequency of anti-thyroid peroxidase antibodies (11.7% vs. 4.2%, p=0.049) and higher insulin requirement (0.89±0.41 vs. 0.77±0.36 IU/kg, p=0.005). Cases with a family history of T1DM were more likely to have anti-endomysial antibodies (42.9% vs. 8.1%, p=0.027) and higher initial blood glucose levels (510.5±145.0 vs. 436.1±156.5 mg/dL, p=0.005).
Conclusion: The findings possibly indicate a decreasing age of T1DM onset. The high frequency of ketoacidosis at presentation is noteworthy. Girls had higher rates of ketoacidosis, higher frequency of anti-thyroid antibodies and higher insulin requirements as compared to boys. Patients with a family history of T1DM had higher initial glucose levels and higher frequency of anti-endomysial antibodies.

Objective: Considering the ever increasing population of diabetic adolescents and the association of the disease with psychosocial problems throughout its course, depression and/or anxiety and social support from parents are issues of special concern in these patients. The study aimed to identify the depression and anxiety state of diabetic adolescents and its impact on the management of diabetes mellitus (DM).
Methods: 295 adolescents with type 1 DM and their parents attended our study. Psychological distress was assessed using the Children’s Depression Inventory and the State-Trait Anxiety Inventory (STAI I-II) for Children, Perceived Social Support from Family (PSS-Fa) scale, Beck Depression Inventory for adults, STAI I-II for adults and the Multidimensional Scale of Perceived Social Support (MSPSS). Records of glycemic measurements, insulin dosage and hemoglobin A1c levels were used as glycemic control parameters.
Results: Depression rate was 12.9%. State (p<0.001) and trait anxiety (p<0.001) levels were high; PSS-Fa (p<0.001) and MSPSS (p<0.006) scores were low in the depressive patients. Positive correlations were noted between depression, PSS-Fa, STAI-I and STAI-II.
Conclusion: Therapeutic strategies of DM should include co-existing psychiatric conditions throughout the course of the disease. In diabetic adolescents, PSS-Fa, STAI-I and STAI-II appear to be effective tools in the evaluation of depression.

Objective: To assess the impact of acanthosis nigricans (AN) on depression symptoms, related quality of life and self-esteem scores in obese adolescent girls.
Methods: Fifty-nine obese adolescent girls (mean age: 13.19±1.3 years, age range: 12-17 years, mean body mass index: 29.89±3.30) were enrolled in this study. The obese adolescent girls were divided into two groups based on presence or absence of AN. Non-obese healthy adolescents constituted the control group (30 girls, mean age: 13.5±1.4 years). All subjects were evaluated using the Children’s Depression Inventory (CDI), the State-Trait Anxiety Inventory for Children (STAI-C), and the modified Rosenberg Self-Esteem Scale (SES). Higher scores indicated more severe depression and anxiety, as well as low self-esteem status.
Results: The AN and non-AN obese groups showed significantly higher CDI, STAI-C and SES scores than the control group, and the two obese groups demonstrated no significant differences for these scores. The AN obese group with higher total testosterone levels (>50 ng/dL) had higher scores for SES (2.55±1.8 vs. 1.42±1.2; p=0.03) than the AN obese group with low total testosterone levels. SES scores significantly correlated with total testosterone levels (r=0.362; p=0.03) and fasting insulin (r=0.462; p=0.03) in the AN obese group.
Conclusion: Higher SES scores (low self-esteem status) were determined in obese adolescents with acanthosis and were related to hyperandrogenism. This study also showed that a high testosterone level may be one of the important indicators of low self-esteem status in obese girls with AN.

Peroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalities and dysmorphic facial appearance. The patient was born to parents who were first cousins. Very-long-chain fatty acids and pristanic acid levels were in the normal range, but an elevated phytanic acid level was detected by gas chromatography/mass spectrometry. The PEX7 gene was sequenced in the patient and his parents. A novel homozygous mutation, c.192delT (p.F64Lfs*10), was identified in the patient and was present in heterozygosity in both parents. In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.

Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously.

Growth hormone (GH) deficiency is the most common pituitary hormone deficiency after traumatic brain injury. Patients with GH deficiency have a reduced sweating capacity which increases the risk of developing hyperthermia. To the best of our knowledge, central fever that developed due to GH deficiency and improved with GH treatment has not yet been reported. In this article, we present a case of dramatic improvement of central fever with recombinant human GH therapy in a patient with posttraumatic GH deficiency.

Autoimmune polyglandular syndrome type 2 is defined as the occurrence of Addison’s disease concomitantly with autoimmune thyroid disease and/or type 1 diabetes mellitus. An 11-year-old boy with Hashimoto’s disease, Addison’s disease, celiac disease and Langerhans islet cell autoimmunity is described in this case report. Treatment of an endocrine disease may also trigger the onset of another endocrine disease. This case report underlines the importance of early recognition and treatment of critical endocrine diseases as well as the necessity to investigate pediatric patients with autoimmune diseases for coexisting conditions. Furthermore, the role of psychological stress as an inducer of autoimmunity was also discussed.

A number of factors may lead to inaccuracy in measurement of capillary blood glucose with a glucometer. Measurement of other carbohydrate molecules such as galactose and fructose along with glucose can potentially be a cause of error. We report a newborn patient who was referred to our hospital with conjugated bilirubinemia, hepatomegaly and high capillary blood glucose levels measured with a glucometer. Simultaneous biochemical measurements revealed normal blood glucose levels. Further investigation led to a diagnosis of classical galactosemia. Capillary blood glucose level measured with glucometer also dropped to normal values following cessation of breastfeeding and initiation of feeding with a lactose-free formula.