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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by a defect in one of the enzymes or transport proteins involved in the cortisol synthesis in the adrenal cortex. The most common form of CAH, which occurs in more than 90% of cases, is a 21-hydroxylase enzyme deficiency. The latter is subdivided into nonclassical and classic (salt-losing and virilizing) forms. The prevalence of classic forms of 21-hydroxylase deficiency ranges from 1: 14,000 to 1:18,000 live births worldwide. According to the data of neonatal screening in the Russian Federation, the prevalence of the disease in some regions ranges from 1: 5000 to 1: 12000, in the country as a whole - 1: 9638 live newborns. The non-classical form of CAH occurs more often - from 1: 500 to 1: 1000 among the general population. In second place is the hypertensive form of CAH - a deficiency of 11β-hydroxylase, which, according to the literature, occurs in about 1 per 100,000 newborns. These clinical guidelines were compiled by a professional community of narrow specialists, approved by the expert council of the Ministry of Health of the Russian Federation, and updated the previous version published in 2016. The clinical guidelines are based on systematic reviews, meta-analyses and original articles, and scientific work on this issue in the Russian Federation and other countries. The purpose of this document is to provide clinicians with the most up-to-date, evidence-based guidelines for the CAH diagnosis and treatment

Introduction. Long-term and high-quality glycemic control prevents the development of vascular complications of diabetes type 1 and improves the disease prognosis, significantly increasing life expectancy. A decrease in the quality of life (QOL) of patients with diabetes type 1 is associated with the disease complications development and carbohydrate metabolism status. In connection with the proven advantages of using indicators of time spent in glycemic ranges (TIR, TAR, TBR), the study of their associations with QOL in patients with type 1 diabetes when switching from long-acting analog insulins to insulin degludec is of particular interest.Aims. To assess the quality of life with diabetes type 1 when switching from long-acting analogs to insulin degludec in real world clinical practice.Materials and methods. The study was designed as a prospective, single-center, uncontrolled study. The recruitment of patients with diabetes type 1 who did not achieve the target values of control of carbohydrate metabolism control, who were on therapy with long-acting and ultrashort-acting analog insulin therapy, was carried out in accordance with the matching criteria. The calculation of TIR and TBR was carried out employing the data from professional continuous monitoring of glucose levels and selfmonitoring of blood glucose levels. The SF-36 Health Status Survey was used to assess QoL.Results. The study included 26 patients who met the inclusion criteria and did not have the exclusion criteria. The relationships between TIR, TBR and QoL parameters during insulin degludec therapy were revealed - with vitality, bodily pain, mental health, which demonstrates an increase in QoL mainly due to the mental component of health.Conclusions. Switching patients with type 1 diabetes from long-acting analog insulins to ultra-long-acting analog insulin on an outpatient basis provides an improvement in glycemic control due to HbA1c and TIR, TBR, and also increases QOL satisfaction, mainly due to the mental component of health.

Oral semaglutide is the first-in-class glucagon-like peptide-1 receptor agonist available in the form of pills administered per os. PIONEER — the clinical trial program assessing the efficacy and safety of oral semaglutide — demonstrated the dose-­dependent efficacy of the drug: the reduction of up to -1,4% in terms of glucose-lowering effects and the decrease of up to 5 kg in terms of weight loss. Moreover, oral semaglutide is superior in this regard compared to empagliflozin 25 mg, liraglutide 1,8 mg and sitagliptin 100 mg according to the dedicated trials of clinical program. From the cardiovascular perspective oral semaglutide has been proven to be safe. Therapeutic concentration of semaglutide in oral form is reached under ­several conditions: taking tablets on a daily basis in a fasting state with up to half a glass of water and waiting 30 minutes before drinking, eating, or taking other drugs. Most frequent adverse events were GLP-1 associated gastrointestinal reactions (­nausea, vomiting and diarrhea), most of the events were transient and occurred generally during dose escalation.

The presence of continuous glucose monitoring (CGM) systems has expanded diagnostic capabilities. The implementation of this technology into clinical practice allowed to determine the patterns and tendencies of excursions in glucose levels, to obtain reliable data concerning short-term glycemic control. Taking into consideration the large amount of obtained information using CGM systems, more than 30 different indicators characterizing glycemic variability were proposed. However, it is very difficult for a practitioner to interpret the data obtained due to the variety of indicators and the lack of their target values. The first step in the standardization of indices was the creation of the International Guidelines for CGM in 2017, where the Time in Range (TIR) (3,9–10,0 mmol/l, less often 3,9–7,8 mmol/l) was significant. To complement the agreed parameters and simplify the interpretation of obtained data using CGM, in 2019 the recommendations were prepared for the International Consensus on Time in Range, where TIR was validated as an additional component of the assessment of glycemic control along with HbA1c. In the literature review the issues of the association of TIR with the development of micro- and macrovascular complications in type 1 and 2 diabetes are considered. The relationship with other indicators of the glycemic control assessment was also analyzed and the dependence of insulin therapy on TIR was shown. TIR is a simple and convenient indicator, it has a proven link with micro- and macrovascular complications of diabetes and can be recommended as a new tool for assessing the glycemic control. The main disadvantage of TIR usage is the insufficient apply of CGM technology by the majority of patients with diabetes.

The influence of obesity on human health, as a multifactorial and multigenic disorder, is a rather complex, interdisciplinary and at the same time extremely urgent problem of modern society. Vitamin D deficiency is one of the consequences of obesity that negatively affects a person’s life expectancy. Vitamin D deficiency is rightfully considered a silent, non-infectious metabolic pandemic of the 21st century. Its significant role in the functioning of the human body is deep and multifaceted, since vitamin D is an integral regulator of the transcriptional activity of genes that control 3–5% of the human genome. There are ongoing discussions among experts in the medical community about the negative impact of obesity on 25 (OH) D levels, and the opposite hypothesis is also being discussed, where vitamin D deficiency is considered an independent risk factor for obesity. Both external causes of the formation of vitamin D deficiency against the background of excessive deposition of adipose tissue and internal metabolic processes underlying the pathogenetic association are analyzed two pathological conditions.

In the context of the increasing prevalence of diabetes, an important task is to educate the patient on the mandatory self-monitoring of blood glucose levels (SMBG), which is an integral component of the treatment and prevention of acute and chronic complications of the disease. On the basis of the SMBG data, it is possible to assess the parameters of glycemic variability, which is the fluctuations in blood glucose during the day and differences in blood glucose levels at the same time on different days. Due to the fact that GV is one of the main criteria for assessing the quality of glycemic control, its correction is considered as a new goal in the treatment of patients with diabetes.

Glycemia variability (GV) is an important factor in assessing the quality of glycemic control, as it contributes to the development of micro- and macrovascular complications of diabetes. Currently, there are mathematical methods for assessing GV, obtained using data from professional continuous glucose monitoring (PCGM). PCGM is one of the most modern, innovative technologies that allow assessing the quality of glycemic control and GV in patients with diabetes. The widespread clinical use of PCGM and the interpretation of the data obtained are limited by the lack of generally accepted reference values, as well as by the cost of technology. Reference ranges are needed to interpret the PCGM data in order to improve the quality of glycemic control in patients with carbohydrate metabolic disorders. Aim. Determine the reference ranges for glycemic variability indicators based on the data of professional continuous glucose monitoring to assess the quality of glycemic control. Materials and methods. We studied a population of people without carbohydrate metabolism disorders. A portable Medtronic iPro2 system (USA) was used for PCGM. A sensor was introduced into the subcutaneous fat of the subject, with the help of which 288 glucose measurements were made per day. Calibration was carried out by the subject himself 4 times a day using an individual glucometer. GV parameters were calculated using the Care Link iPro2 Medtronic and EasyGV version 9.0 programs in order to work out the reference ranges. The duration of the study inclusion period was 2 months. The observation period of the participants was 6 days. Results. As a result of the study, the following reference ranges were obtained: the median sensor glucose was 5.0 [4.8; 5.4] mmol/l, TIR – 98.0% [95.0; 99.0], TAR – 0.0% [0.0; 0.0], TBR – 1.5% [1.0; 5.0], GMI – 5.4% [5.3; 5.6], CV – 13.6% [11.6; 15.1], SD – 0.7 mmol/l [0.6; 0.9], MAGE – 1.5 mmol/l [1.2; 1.7], MAG – 0.7 mmol/l/hour [0.6; 0.9], M-Value – 3.7 mmol/l [1.8; 4.4], J-index – 10.4 [9.4; 13.1], CONGA – 4.6 mmol/l [4.5; 5.0], HBGI – 0.7 [0.6; 0.9], LBGI – 2.9 [1.5; 3.2], ADRR – 1.1 [1.0; 2.3]. When conducting a comparative analysis of indicators of glycemic variability, it was found that there were no statistically significant differences depending on age, gender and BMI. Only TBR had statistically significant gender differences (p = 0.007). When carrying out the correlation analysis, only GMI, sensor glucose, M-value, J-index, CONGA, LBGI indicators were statistically significantly correlated with all indicators of the time spent in the ranges. Conclusion. In the course of the study, reference ranges for GV indicators were determined – TIR, TAR, TBR, GMI, CV, sensor glucose, SD, MAGE, MAG, M-Value, J-index, CONGA, HBGI, LBGI, ADRR in the russian population. The obtained values will help physicians in the interpretation of the PNMG data, the wider use of the method in clinical practice, and the expansion of diagnostic capabilities for disorders of carbohydrate metabolism.

Public organization “Russian Association of Endocrinologists”. Clinical guidelines.&nbsp

BACKGROUND. In Russian Federation, there are no large-scale cross-sectional multicenter epidemiological studies assessing the prevalence of vitamin D deficiency and insufficiency in different geographical latitudes. Insufficient solar insolation and inadequate vitamin D content in food dictate the need to study the epidemiological structure of low vitamin D status in Russia.AIM. To assess the incidence of vitamin D deficiency and insufficiency among the population living in the regions of the Russian Federation located at latitudes from 45 ° to 70 °.MATERIALS AND METHODS. The first stage of the Russian multicenter non-interventional registry study using the «crosssectional» method was carried out from March 2020 to May 2020.RESULTS. In regions that represent a geographically representative sample of regions of the Russian Federation with a high risk of developing low levels of vitamin D, it’s deficiency was noted in 55.96%, and the level of deficiency and insufficiency was recorded in 84.01%.CONCLUSION. Close attention to the wide scale of the problem of vitamin D deficiency and insufficiency in the Russian Federation will contribute to the progressive formation of various educational and preventive programs necessary to strengthen health and improve the quality of life of the population.

Aim : The aim of this study was to evaluate the efficacy and safety of the new ultra-long-acting insulin degludec (Tresiba®) in the treatment of type 2 diabetes in routine clinical practice. Methods : This primary health care clinical observational study included 20 insulin-naive type 2 diabetic patients (mean age: 57.2 years, range: 54.4–61.5 years), who were inadequately controlled on maximum tolerated doses of oral antidiabetic drugs (OADs) and in whom baseline insulin therapy with ultra-long-acting insulin degludec was initiated. The duration of treatment was 6 months. The list of procedures met the ‘Standard of primary medical care in non-insulin-dependent diabetes mellitus’, as approved by the Ministry of Health of the Russian Federation (12.28.2012 №1581-n). Quality of life was assessed using the SF-36 questionnaire. All patients provided written consent before participating in the study. Results : In the outpatient setting, insulin degludec was well tolerated by all the patients. During the observational period, there were no events of symptomatic hypoglycaemia confirmed by self-measured plasma glucose (blood glucose level

To test FTO, KCNJ11, SLC30A8, and CDKN2B for association with type 2 diabetes mellitus (DM), the allele and genotype frequency distributions were established for several polymorphisms of the genes. A comparison of allele and genotype frequencies between DM patients and healthy subjects implicated CKNJ11, SLC30A8, and CDKN2B, but not FTO, in the disease. The genes that affect insulin production and secretion in pancreatic β cells proved to play a main role in type 2 DM in the Russian population.

Genes TCF7L2 and SLC30A8, encoding transcription factor-4 and transmembrane zinc transporter-8, respectively, play an important role in the regulation of development, proliferation, and pancreatic β cell function. In the present study we examined polymorphic markers of genes rs12255372 [NT_03359.12:g33557428G->T] of TCF7L2 gene and rs13266634 [NP_776250.2:p.R325W] of SLC30A8 in groups of Russians with type 2 diabetes (T2D) (n = 588) and healthy normoglycemic controles (n = 597). Significant association of allele T (rs12255372) and allele R (rs13266634) with a higher risk of T2D development has been found (OR = 1.37 and 1.22, respectively). Adjustment for the effect of potential nongenetic risk factors resulted in a further increase in the OR values, from 1.54 (P = 0.24) to 1.89 (P = 0.046) for homozygous carriers of the T allele and from 1.29 (P = 0.035) to 1.35 (P = 0.019) in the individuals homozygous for the R allele. The patients homozygous for predisposing allele T (rs12255372) or R (rs13266634) had significantly lower insulin concentrations in the blood 2 h after glucose tolerance test (GTT) as well as lower values of HOMA-β, β cell homeostasis indicator compared to the carriers of other genotypes. Thus, we have shown that the rs12255372 and rs13266634 markers are independent genetic T2D risk factors in a Russian population.

West Siberia is the region, where annual sunlight days amount is very small because of geographical location in high latitudes. So, all inhabitants have high risk of vitamin D deficiency, what is proved OP fractures frequency studies. To estimate bone mineral density (BMD) loss in endocrinological patients, we performed 528 persons with such diseases as diabetes mellitus type 1, hypothyroidism, toxic goiter and glucocorticoid-dependent bronchial asthma. BMD was measured by DEXA method in forearm distal parts. Atraumatic fractures were registered in 15,3 %.We demonstrated high frequency of osteopenic syndrome (62,6-80%) in endocrine patients, more expressive in postmenopausal women. The received data allowed to determinate OP risk factors for our territory.