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MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is a genetically determined disease caused by mutations in mitochondrial DNA. We present a girl who was suspected of MELAS syndrome during the diagnostic evaluation of short stature. The patient suffered from symptoms potentially indicating mitochondrial disease, such as muscular weakness, cranial nerve VI palsy, headaches, retinitis pigmentosa, sensory-neural hearing loss, and elevated lactic acid. T2-weighted brain MRI showed hyperintense lesions in the white matter. Muscular biopsy revealed ragged red fibres. Genetic evaluation did not detect the most common mutations in the MT-TL1 gene and MT-ND5 gene. Endocrine tests led to the confirmation of growth hormone deficiency, and so replacement treatment was started. After 1 year of recombinant growth hormone therapy the patient was diagnosed with diabetes. At the age of 14 years the LH-RH test showed prepubertal values. Endocrine disorders may be one of the first manifestations of MELAS syndrome. In differential diagnosis of short stature, less common causes, such as mitochondrial diseases, should be taken into consideration.

Introduction: Estimation of carbohydrate metabolism parameters in the groups: AGA preterm, SGA term, SGA preterm and AGA term., Material and Methods: 89 children were qualified: group A - AGA preterm 22, group B - SGA preterm 26, SGA term group C - 30 children, AGA - term group D - 11 children; at the age of 6-7 years. Insulin and fasting glucose levels were measure. HOMA IR and QUICKI, lipid profile were calculated., Results: Higher insulin concentration were found in groups C vs. A (6.93 vs. 3.68 uIU/ml, p = 0.00005); B vs A (5.49 vs. 3.68 uIU/ml, p = 0.02). HOMA IR was significantly higher in the C vs A group (1.38 vs. 0.73, p = 0.00014); and B vs A (1.11 vs. 0.73, p = 0.03). Quicki were lower in C vs. A (0.7 vs. 0.96, p = 0.00068)., Conclusions: The risk of insulin resistance appears to be more associated with lower birth weight than time of birth. No greater risk of insulin resistance has been established in preterm births with AGA.

Introduction: Overweight children are growing problem as in the pediatric, as well in the diabetic population. The aim of the study was to research the percentage of overweight and obesity in a group of adolescents with type 1 diabetes, and to analyzethe lipid parameters, as well risk factors of these abnormalities., Material and Methods: The study group consist of 60 type 1 diabetic adolescents (including 32 girls, 53.3%), aged above 12 years (mean age for girls 14.6+/-0,3years, boys 15.6+/-0.4 years) with diabetes duration (girls 5.7+-0.6 years, boys 4.4+/-0.8 years). Statistical analysis was performed using Statistica v 9.0 and SPSS v20., Results: The study revealed that boys with type 1 diabetes are significantly higher than healthy population, with weight, waist circumference and BMI comparable to the healthy counterparts. However, diabetic girls are more likely to be overweight and have bigger waist circumference, and higher BMI than the healthy population. Overweight were 12 adolescents (20%) using BMI ≥1SD criterion, and 10 (16%) using waist circumference as obesity parameter. Logistic regression revealed that the most important factors for obesity and abdominal obesity are female gender (OR=2.43 and OR=4.56for obesity and abdominal, respectively), diabetes duration above 5 years (respectively OR=1.96 and OR=3.27) and poor metabolic control (respectively OR=1.74 and OR=2.89)., Conclusions: The most important risk factor for obesity in adolescents with type 1 diabetes is female gender. Lipids profile is closely dependent on metabolic control and mass excess. Diabetes duration, metabolic control and lipids profile are significant risk factors for overweight and abdominal obesity., (© Polish Society for Pediatric Endocrinology and Diabetology.)

Introduction: TNF-α, and its soluble form sTNFR1, as proinflammatory hormone plays a great role in pathogenesis of auto immunological diseases, insulin resistance, both carbohydrates and fat metabolism and development of late complications in type 1 diabetes mellitus (DMT1) patients., Aim of the Study: To asses TNF-α and sTNFR1 levels in children with DMT1 and to analyze the correlation with anthropometric parameters, metabolic control and the influence of the kind of insulin therapy., Material and Methods: 67 patients, aged from 3.71 to 14.81 years (mean±SD: 10.33±2.21). All the children were prepubertal (T ≰2), suffering for DMT1, without any coexisting diseases. The duration of the disease varied from 1.83 to 9 years (mean±SD: 4,0±1,6), and the age at diagnosis oscillated between 1.84 to 10.81 years. All the patients were divided into subgroups according to the kind of therapy which was not changed in the last 6 months. 15 agematched healthy children were included into the study. There were no statistically significant differences between the groups as to the metabolic control, age, weight, height and BMI., Results: TNF-α levels in the study group ranged from 0.30 to 14.20 ng/ml (mean±1.62 ± 0.41 pg/ml) and were lower than in the control group: from 0.20 to 19.00 pg/ml (mean±SD: 1.67±1.41 pg/ml) (p >0.05). The highest TNF-α levels were observed in the insulin pump group, lower in the multiple insulin injection group and in the conventional insulin therapy group. The sTNFR1 in the study group ranged from 707.00 to 1646.00 pg/ml (mean±SD: 1028.18±181.24 pg/ml) and was higher than in the control group: 613.0 to 1310.00 pg/ml (mean±SD: 978.00±203.03 pg/ml) (p >0.05). The highest sTNFR1 levels were observed in the insulin pump group, lower in the multiple insulin injection group and the lowest in the conventional insulin therapy group., Conclusions: TNF-α levels are lower in DMT1 children, correlate only with height and do not depend on the kind of insulin therapy. sTNFR1 levels are higher in children with DMT1, correlate with anthropometric parameters and do not depend on the kind of insulin therapy.

Introduction: The most frequent type of diabetes in childhood is type 1 diabetes. Thanks to the development of genetic testing, the rare monogenic forms of that disease have been defined. One of them is neonatal diabetes identified within the first 6 months of life and often associated with the mutation in KCNJ11, ABCC8 or insulin gene. A less frequent mutation in the glucokinase gene can cause both permanent neonatal diabetes as well as mild diabetes MODY 2., Case Report: A 33-day-old boy admitted to hospital because of hyperglycemia from the first day of life. Treatment with intravenous infusion of insulin since 5 days of life. A child born out of the first pregnancy in the 37th week of gestation, with hypotrophy symptoms. The pregnancy had been complicated by gestational diabetes. Birth weight 2030 g. Insulin and c-peptide level significantly below normal. Immunologic markers of type 1 diabetes were negative. A continuous subcutaneous insulin infusion using a personal insulin pump was begun in the 60th day of life. Irregularities in the economy of carbohydrates were found in the parents. A double mutation in the glucokinase gene in genetic testing explained the cause of neonatal diabetes. The boy had inherited from his parents two different mutations in glucokinase gene: from the mother S384L and from the father T207M. He is a complex heterozygote., Conclusions: Genetic diagnosis helped determine the cause of neonatal diabetes in the child and MODY 2 diabetes in the parents. Personal insulin pump therapy is the most effective treatment in children during infancy.

Introduction: Leptin and soluble form of leptin receptor play a great role in both carbohydrate and fat metabolism which is very important in diabetes mellitus type (DMT1) patients., Aim of the Study: To asses leptin and soluble leptin receptor levels in children with DMT1 and to analyze correlation with anthropometric parameters, metabolic control and the influence of various kinds of insulin therapy., Material and Methods: 67 patients, aged from 3.71 to 14.81 years, mean ± SD: 10.33 ± 2.21) and 15 age-matched healthy children were included into the study. All children were prepubertal (T <2), suffering for DMT1 for more than two years, without any coexisting diseases. All patients were divided into subgroups according to the kind of therapy. There were no statistically significant differentials between groups as to the metabolic control, age, weight, height and BMI., Results: Leptin levels in the study group range from 1.27 to 59.90 ng/ml (mean ± SD: 11.34 ± 9.42 ng/ml) and were higher than in control group: from 1.46 to 26, ng/ml (mean ± SD: 8.23 ± 7.62 ng/ml) (p >0.05). The highest leptin levels were observed in multiple insulin injection group, lower in pump group and the lowest conventional insulin therapy group. Soluble leptin receptor levels in study group range from 30.50 to 101.00 ng/ml (mean ± SD: 48.65 ± 13.26 ng/ ml) and were significantly higher than in control group: 27.50 to 61.00 ng/ml (mean ± SD: 39.37 ± 9.23 ng/ml) (p <0.01). The highest soluble leptin receptor levels were observed in the multiple insulin injection group, lower in pump group and the lowest conventional insulin therapy group., Conclusions: leptin levels are higher in DMT1 children, correlate with anthropometrics parameters, age, age at the beginning of diabetes and depend on the kind of insulin therapy. Soluble leptin receptor levels are significantly higher in children with DMT1, correlate with anthropometrics parameters, metabolic control, age, age at the beginning of diabetes, duration of diabetes and depend on the kind of insulin therapy.

Background: Hypoglycemia is an acute disturbance of energy, especially impacting the central nervous system, but direct influence on peripheral nervous function is not detected. The aim of the study was to establish the influence of hypoglycemic moderate and severe episodes on the function of peripheral nerves, hearing and visual pathway., Material and Methods: 97 children with type 1 diabetes (mean age 15.4+/-2.16 years, mean duration of diabetes 8.11+/-2.9 years, mean HbA1c 8,58+/-1.06%), at least 10 years old and with at least 3 years duration of diabetes, were included to study. Nerve conduction studies, visual (VEP) and auditory (ABR) evoked potentials were performed with standard surface stimulating and recording techniques. Moderate hypoglycemic episodes were defined as events of low glycemia requiring help of another person but without loss of consciousness and/or convulsions but recurrent frequently in at least one year. Severe hypoglycemia was defined as events with loss of consciousness and/or convulsions. Univariate ANOVA tests of significance or H Kruskal-Wallis test were used, depending on normality of distribution., Results: The subgroups with a history of hypoglycemic episodes had significant delay in all conduction parameters in the sural nerve (amplitude p<0.05, sensory latency p<0.05, and velocity p<0.005) and in motor potential amplitude of tibial nerve (p<0.005). In ABR wave III latency and interval I-III in subgroups with episodes of hypoglycemia (p<0,05) were significantly prolonged. In analyses of VEP parameters no differences were detected., Conclusions: The study showed influence of hypoglycemic episodes on function of all sural nerve parameters and tibial motor amplitude, and in ABR on wave III and interval I-III. Frequent moderate hypoglycemic episodes were strong risk factors for damage of the peripheral and central nervous systems, comparable with impact of several severe hypoglycemias.