Aim. To assess quality of life (QL) in children and adolescents with type 1 diabetes mellitus (DM1) depending on its duration, mode of insulin administration,and degree of social adaptation. Materials and methods. Generic Core Scale and Diabetes Module of Pediatric Quality of Life Questionnaire were used to estimate QL in 72 diabeticchildren and adolescents aged 5-18 yr with the participation of one of the parents. Patients with severe concomitant pathology were not includedin the study. Results. Overall QL score in children and adolescents with DM1 was 73,043?1,24. The psycho-social activity of most patients in all age groups was ratherhigh in contrast to suppressed physical functions due to complications of DM1 ten or more years in duration (51,4?9,19 scores). The psycho-emotionalstate was less dependent on negative effects of the disease. Patients using an insulin pump had on the whole better QL than those receiving intensiveinsulin therapy (82 and 72 points respectively, p

A 46,XY ovotesticular disorder of sexual development is a rare variant of pathological gonadal differentiation. A 15-month-old patient had ambiguous external genitalia, no palpable gonads, and the 46,XY karyotype. The uterus was detected by imaging of the lesser pelvis. Gonads resided on the fallopian tubes and macroscopically resembled ovotestes: each gonad consisted of two compartments separated by a connective tissue interlayer. Histological examination showed that one gonadal portion consisted for ovarian tissue, was differentiated into the cortical and medullary matter, and contained primordial follicles with pronounced dystrophic changes. The remaining portions consisted of immature tubular epithelium with proliferative cellular changes. The decision about bringing up as a female with possible adaptation during puberty was justified in this case. The surgical approach was selected on the basis of histological examination and a decision on performing gonadectomy was made.

Since the age of 1 year, a child presented with hypoglycemic conditions accompanied by ketosis as well as periodic hyperglycemia, for which reason he was hospitalized to the Pediatric Endocrinology Department of the Mirotvortsev Saratov Clinical Hospital. At the hospital, the child underwent a comprehensive examination that excluded diseases such as hyperinsulinism and diabetes mellitus. In the Laboratory of Hereditary Diseases of Metabolism of the Medical Genetics Research Center, a hemizygotic mutation in the PHKA2 gene (glycogenosis type IX) was detected. The mother was also detected with the heterozygous mutation c.226G>A (p.E76K in the PHKA2 gene). Based on the results of the genetic examination of the child and mother, the patient was finally diagnosed with glycogenosis type IX. The patient was put on an individualized protein diet avoiding edible sugar and fatty foods; corn starch (30 g every 6 h and overnight) was recommended. Strict adherence to the diet resulted in less frequent seizures and decreased severity of episodes.

Aim. To evaluate the importance of insulin pump therapy for the achievement of DM1 compensation in children of different age. Materials and methods. The study included 36 patients aged 5-18 years with DM1. Efficiency of insulin pump therapy was assessed from the resultsof clinical and metabolic monitoring; the data obtained were treated with the use of the Statistica 6.0 program. Results. The use of insulin pump therapy permits to achieve compensation of carbohydrate metabolism in children and adolescents with type 1 diabetesby modeling therapeutic schemes for individual patients. The basal regime of insulin administration at a minimal rate is indicated to young childrentaking into account their generally low background requirement for insulin. Adolescents need a stepwise regime of insulin delivery with an increasedrate of administration inearly morning and evening hours. Conclusion. The continuous regime of subcutaneous insulinadministration ensures the freedom of choice of the character of physical activity and simplifiescontrol of diabetes in children and adolescents engaged in sports activities.