ФГБУ Национальный медицинский исследовательский центр эндокринологии Минздрава России, Москва ОБОСНОВАНИЕ. Данные регистра являются основным источником информации о пациентах с сахарным диабетом (СД) для повышения качества организации лечебной и профилактической помощи.ЦЕЛЬ. Провести анализ эпидемиологических характеристик СД (распространенности, заболеваемости, смертности) у детей и подростков в РФ по данным Федерального регистра СД, оценить динамику данных параметров за период 2013-2016 гг., состояние углеводного обмена, структуру инсулинотерапии, частоту госпитализаций и частоту разви-тия диабетических осложнений в данных возрастных группах. . Заболеваемость СД1 у детей в 2016 г. составила 14,2/100 тыс. д.н., у подростков -10,0/100 тыс. п.н. Распределе-ние по уровню HbA 1c у пациентов с СД1 в 2016 г: дети: <7,5% -32%, 7,6-9,0% -33%, >9% -35%; подростки: <7,5% -25%, 7,6-9,0% -30%, >9% -45%. Среди осложнений у детей и подростков наиболее часто регистрируется диабетическая нейропатия при СД1 в 10,9% и 40,8% случаев, при СД2 -в 4,7% и 8,8% соответственно, из сопутствующих заболева-ний -артериальная гипертония и дислипидемия. Госпитализировались в анамнезе 43,8% детей и 49,2% подростков, большинство госпитализаций в 2016 г. (дети 71,9%, подростки 67,1%) было по причине СД.ЗАКЛЮЧЕНИЕ. Установлено, что в динамике 2013-2016 гг. сохраняется рост распространенности СД1 у детей при от-носительно стабильных показателях у подростков. По данным регистра, в последние два года отмечено снижение темпов заболеваемости СД1 и, напротив, рост заболеваемости СД2 у детей. Установлены значительные межрегиональ-ные различия в уровне заболеваемости и распространенности СД в регионах, расположенных в различных геогра-фических областях РФ. Частота диабетических осложнений у детей и подростков с СД варьирует. Установлена четкая связь частоты госпитализаций с выраженностью декомпенсации СД. В структуре терапии данной возрастной группы соотношение инсулинотерапии в шприцах-ручках и помповой терапии по данным регистра составляет 80,9%/15,1%.КЛЮЧЕВЫЕ СЛОВА: сахарный диабет; эпидемиология; дети; подростки; распространенность; заболеваемость; смертность DIABETES MELLITUS IN CHILDREN AND ADOLESCENTS ACCORDING TO THE FEDERAL DIABETES REGISTRY IN THE RUSSIAN FEDERATION: DYNAMICS OF MAJOR EPIDEMIOLOGICAL BACKGROUND:The data of the register is the main source of up-to-date information about patients with diabetes mellitus (DM). It's very important for improving the quality of medical care organization.

Aims. To evaluate key epidemiology trends for type 1 diabetes mellitus (T1DM) in children and adolescents of Russian Federation during 2001-2011 yy. Materials and Methods. Dynamics of incidence, prevalence and mortality from T1DM were assessed for national population and, separately, for all federal regions over the 2001-2011 yy. based on the questionnaires developed in the Institute of Paediatric Endocrinology (Endocrinology Research Centre) and data from the State Register of Diabetes Mellitus. Results. 18,392 children aged 0 to 14 years and 8934 adolescents with T1DM were registered in Russian Federation by 01.01.2012.

The aim of our study was to examine the effects of 12-month therapy with recombinant growth hormone (rGH) on the blood antioxidant system in children with growth hormone deficiency (GHD). Total antioxidant capacity (TAC) of plasma was measured by FRAP (ferric reducing antioxidant power or ferric reducing ability of plasma); activities of superoxide dismutase (SOD) and catalase (CAT) in erythrocytes were assessed; non-protein thiols (NT) and ceruloplasmin (CP) levels were also measured. These parameters were determined before and after 12 month of rGH treatment. Eleven treatment-naive prepubertal children with growth hormone deficiency were included in the study. Another 11 prepubertal children comprised a control group. Before rGH treatment, TAC of plasma and NT level in the control group were significantly lower (726 ± 196 vs. 525 ± 166 µmol/L, P = 0.0182 and 0.92 ± 0.18 vs. 0.70 ± 0.22 µmol/ml, P = 0.0319, before and after the therapy, respectively). The only parameter that significantly (19.6 ± 4.7 vs. 14.5 ± 3.4 Units/g Hb, P = 0.0396) exceeded the same in the control group after rGH therapy was SOD activity. However, none of the measured parameters of antioxidant system in GHD children, except for TAC (525 ± 166 vs. 658 ± 115 µmol/L, P = 0.0205), exhibited significant improvement toward the end of the 12-month treatment period, although non-significant changes in CAT activity and CP level were also observed. This work has demonstrated that some parameters of the blood antioxidant system are out of balance and even impaired in GHD children. A 12-month treatment with rGH resulted in a partial improvement of the antioxidant system.

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BACKGROUND: The frequency of ectopia of thyroid gland among all types of dysgenesis varies from 30 to 70%, its most common localization is the root of the tongue. Otorhinolaryngologists, oncologists, pediatricians can take lingual ectopia for hypertrophy of the lingual tonsil or fibroma of the tongue root, which leads to unreasonable surgical treatment. Thyroid scintigraphy plays a key role in the diagnosis of ectopia.AIM: To assess the etiological structure of congenital hypothyroidism (CH) and demonstrate the clinical course in patients with ectopic thyroid tissue in the root of the tongue.MATERIALS AND METHODS: A group of patients with CH was examined. All patients underwent neck ultrasound and radionuclide imaging. The examination was carried out against the background of the abolition of hormone replacement therapy for 14 days or before its initiation. Patients with ectopia in the root of the tongue underwent videofibrolaryngoscopy. Some patients underwent a genetic study with using genes panel of a panel of candidate genes responsible for the development of CH using the NGS method. The molecular genetic study was conducted to some patients, next-generation sequencing with the genes panel.RESULTS: The study included 73 patients with primary CH aged from 2 weeks to 17.3 years: 69 children were diagnosed based on the results of neonatal screening, 4 children with thyroid ectopia were first examined older than 6 years. The median age of patients at the time of the examination was 6.9 years [4.8; 10.0]. By data of ultrasound aplasia was diagnosed in 47.9% of patients, one child had hemiagenesis and ectopic thyroid tissue of various localization was detected in 26.0% of  children. In 24.7% of children thyroid tissue was found in a typical location. Scintigraphy confirmed thyroid aplasia in 65.7% of children. Examination revealed various variants of ectopically located thyroid tissue in 31 children (42.4%): thyroid ectopia in the root of the tongue in 25 children (80.6%), ectopia in the sublingual region in 5 children (16.2%), double ectopia was detected in 1 child. The median level of TSH in newborns with ectopic thyroid gland was 124 IU/ml and was significantly lower than in children with aplasia — 219 IU/ml, p<0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia — 37.12 ng/ml versus 0.82 ng/ml, p><0.05. CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH — ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment. ><0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia — 37.12 ng/ml versus 0.82 ng/ml, p< 0.05.CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH — ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment.

The Kocher-Debre-Semelaigne syndrome (KDSS) is a rare disease that clinically manifests as hypothyroidism and muscle pseudohypertrophy of the trunk and extremities. KDSS occurs mainly in countries where there is no screening for congenital hypothyroidism; however, this syndrome can develop when there is acquired hypothyroidism. In this syndrome, muscle hypertrophy is false (pseudohypertrophy); it is not accompanied by an increase in muscle strength but, on the contrary, leads to a decrease in muscle strength and the development of muscle hypotension. Increased levels of creatinine phosphokinase (CPK) and lactate dehydrogenase (LDH) are the characteristic laboratory sign of myopathy in this syndrome. The signs of hypothyroidism and muscle pseudohypertrophy are reduced by levothyroxine therapy. Indicators of the final height in the case of delayed treatment may remain poor. The clinical signs characteristic of the disease, especially in the presence of a nonspecific clinical picture of hypothyroidism, enable an early diagnosis and timely treatment, which emphasizes the importance of doctors’ awareness of this syndrome.