Iffet Bircan

Amaç: Tip 1 diabetes mellitus (Tip 1 DM), çocukluk ve ergenlikte en sık görülen endokrin-metabolik bozukluktur. Bu çalışmada, Tip 1 DM’de kötü metabolik kontrol için risk faktörleri, olgularda enfeksiyon sıklığı, eşlik eden otoimmün hastalık sıklığı, Tip 1 DM’un final boyuna ve vücut kitle indeksine (VKİ) etkisinin saptanması planlanarak tedavi ve izlemlerinin tekrar gözden geçirilmesi amaçlanmıştır. Gereç ve Yöntemler: Bu çalışmaya Tip 1 DM’li 184 çocuk ve ergen dahil edilmiştir. Hasta dosyaları retrospektif olarak incelenmiştir ve hastaların sosyodemografik özelliklerini ve enfeksiyon öyküsünü içeren bir anket uygulanmıştır. Bulgular: Dahil edilen vakaların% 53.5’i kız,% 46.7’si erkek olup yaş ortalaması 12.71±0.31 yıldı. Ortalama tanı yaşı 7.71±0.29 yıl iken ortalama Hb1ac değeri 8.45±1.78’di. Ortalama HbA1c değeri ile tip 1 DM için aile öyküsü, ev halkı büyüklüğü, ikametgah ve aylık gelir arasında bir korelasyon bulunmadı. Tip 1 DM kronik bir hastalık olması nedeni ile hastalarda nihai boya etkisi, hedef boy ile nihai boy karşılaştırılarak yapıldı. Nihai boya ulaşan 29 hastanın hedef boylarını geçtiği görüldü. Metabolik kontrolün bir göstergesi olan ortalama HbA1c değeri arttıkça mikroalbüminüri ve nöropatinin arttığı saptandı. Olgularda hastanede yatış gerektirecek ciddi enfeksiyon olmadığı ve yıllık ortalama enfeksiyon sayısı 2,3 olduğu görüldü. Enfeksiyon sıklığında artış saptanmadı. Sonuç: Sonuç olarak, Tip 1 DM’li hastalarda kötü metabolik kontrol için risk faktörü olarak hastalık süresi ve artmış yaş, ergenlik, sosyoekonomik durum, diyet önerilerine uyumsuzluk ve kontrol ziyaretlerine gelememe tespit edilmiştir. Geliştirilmiş metabolik kontrol ile hastaların hedef boya ulaştığı görülmüştür. Hastalarımızda enfeksiyon oranında artış veya hastanede yatmayı gerektirecek ciddi enfeksiyon görülmemiştir. Literatür ile benzer otoimmün hastalık sıklığı izlenmiştir.

Iodine deficiency (ID) continues to be a problem around the world. The present study investigates the prevalence of ID and goiter among school-age children (SAC) in the city center of Antalya, Turkey, aiming to show the effect of the iodization program on the nutritional iodine status, 16 years after it was launched. A total of 1,594 school children aged 6–14 years were included in this cross-sectional study. The ID was evaluated based on median urine iodine/creatine (UI/Cr) (μg/g) levels and median urinary iodine concentrations (UIC)(μg/l). UICs were measured using the Sandell-Kolthoff method, while goiter status was determined by palpation, and staged according to the WHO classification. The median UIC was found to be 174.69 μg/l (25th and 75th percentiles are 119.17–242.83 μg/l), and UIC was found to be lower than 50 μg/L in 6.5% of the population. The median UI/Cr increased from 62.3 μg/g to 163.3 and goiter rates decreased from 34% to 0.3% in the 16 years of the program. However, 19% of the population were classified as ID (mild, moderate or severe) and 11.5% as excessive iodine nutrition. The comparison of two cross-sectional studies, carried out 16-years interval, shows that Antalya is no longer an iodine deficient region. That said, surveillance studies should be continued and the percentage of iodine deficient and iodine excess individuals in the population should be monitored to avoid emerging problems.

Objective: Childhood obesity (OB) is an acknowledged global problem with increasing prevalence reported around the world. We conducted this study with the aim of determining the local trend in OB and overweight (OW) prevalence in the last decade and to observe the alteration of OB and OW prevalence by age group. An additional aim was to construct new age- and gender-specific body mass index (BMI) reference percentile charts for Turkish children living in the city center of Antalya. Methods: This cross-sectional study included 1687 school aged children. International Obesity Task Force guidelines were used to determine the OB and OW prevalence. OW was defined as a BMI between 85th and 95th percentile, and OB > 95th percentile. The data were compared with a previous study carried out in the same region in 2003. The least mean square method was used to construct the BMI reference percentile charts. Results: The prevalence rates for OB and OW were 9.8% and 23.2 %, respectively, with a combined OW/OB rate of 33 %. OB prevalence was higher in boys than girls (p<0.05). The prevalence of combined OW/OB was highest at age 9-10 years. The prevalence of OB has increased 2.9 times during twelve years in this location. Conclusion: Comparing the current findings with rates of OW and OB in the previous decade, childhood OB in Antalya has reached alarming levels. Urgent measures integrated into the national education system should be taken to prevent OB. In addition more surveillance studies should be planned to show the future trend of OB prevalence nationally.

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. A questionnaire covering relevant items for diagnosis and treatment of GHD was sent out to all pediatric endocrinology centers. 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. 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.

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed at 2 months of age, who developed severe growth retardation and a skeletal fracture during the follow-up period. The patient's skeletal X-ray revealed findings of skeletal dysplasia. A clinical diagnosis of WRS was confirmed by the identification of a novel homozygous nonsense mutation (R491X) in exon 9 of the EIF2AK3 gene. The aim of this report is to raise the awareness for Wolcott-Rallison syndrome in cases presenting with isolated neonatal diabetes. This patient demonstrates that the other findings of this syndrome might be obscured by a diagnosis of isolated neonatal diabetes.