Problemy endokrinologii最新文献

Cowden disease (Cowden syndrome) refers to PTEN-associated hamartoma tumor syndromes. It arises due to a mutation in the phosphatase and tensin homolog gene, one of the main functions of which is cell cycle regulation. The presence of a mutation in the gene leads to uncontrolled cell growth, and patients have a lifelong increased risk of neoplasms of various degrees of malignancy. This article presents a clinical case of Cowden syndrome with an early debut at the age of 7 years. The combination of macrocephaly (SDS of head circumference >2) with various skin manifestations (facial trichilemmomas, acral keratosis, papillomatous papules) and the presence of benign and/or malignant neoplasms are pathognomonic for Cowden syndrome. Of the malignancies, breast and thyroid cancer, colorectal cancer, renal cell carcinoma, and endometrial cancer are the most common. Thyroid carcinoma has been shown to have an earlier age of manifestation and often occurs already in childhood. This determines the need to screen patients with a proven mutation in the PTEN gene for nodal neoplasms from an early age. If surgical treatment is necessary, thyroidectomy remains preferable due to the frequent recurrence of nodules, as well as the uncertain potential for malignancy due to the low study of thyroid nodules in patients with mutations in the PTEN gene.

Background: Type 1 diabetes mellitus (T1DM) is the most common form of diabetes mellitus in childhood, where, unlike in adults, it accounts for more than 90% of all cases of diabetes. The constant change in the epidemiology of T1DM with significant differences in populations and regions requires systematic data collection and analysis for timely monitoring of T1DM trends.

Aim: Analysis of the main epidemiological indicators of T1DM in children in the Russian Federation over the past 10 years - from 2014 to 2023.

Materials and methods: The object of the study was the data obtained from the federal statistical observation form No. 12 «Information on the number of diseases registered in patients living in the service area of a medical organization» for the period from 2014 to 2023. The prevalence (total number of registered cases) and incidence (cases with a diagnosis established for the first time) of T1DM (ICD-10 code: E10) were analyzed in children in three age groups: from 0 to 14 years, from 15 to 17 years, and combined from 0 to 17 years (inclusive).

Results: Over the analyzed period, the prevalence of T1DM increased steadily from 238.6 in 2014 to 374.2 cases per 100,000 children in 2023. The prevalence of T1DM in adolescents from 15 to 17 years was higher than in children and amounted to 120.3-203.2 cases per 100,000 adolescents, while in children under 14 years of age, the prevalence was 100.1-172.2 cases per 100,000 children. The annual increase in the prevalence of T1DM averaged 6.3% (95% CI 4.9-7.8). The incidence of T1DM during the analyzed period was 19.1-27.2 cases per 100,000 children and also had a general tendency toward an annual increase in new cases. At the same time, over the past three years, there has been a relative stabilization of incidence rates at 26.5-27.2 per 100,000 children. The annual increase in incidence averaged 4.9% (95% CI 0.9-8.9). The greatest increase in the incidence of T1DM was observed in regions with low incidence.

Conclusion: The epidemiology of T1DM in the Russian Federation is characterized by significant regional and dynamic changes. Over the period 2014-2023, the incidence of type 1 diabetes in children has increased significantly, increasing annually by an average of 5%, while there has been a relative stabilization of incidence rates over the past three years.

Background: In recent years, the incidence of gynecomastia in adult men has increased significantly. It is of interest to study the specific features of the disease in these patients.

Aim: To identify the main characteristics of acute gynecomastia in adult men.

Materials and methods: A continuous one-stage study including 160 adult males with acute onset gynecomastia, who were he was treated in Endocrinology Research Centre, Moscow. Total bilirubin, hepatic transaminases, creatinine, urea, luteinizing hormone, prolactin, sex hormone binding globulin, estradiol, total testosterone, alpha-fetoprotein, chorionic gonadotropin and mammary gland condition were evaluated in all patients. Baseline significance threshold level of p<0.05.

Results: The incidence of gynecomastia increased from 5,4% in 2020 to 14,4% in 2024. Tumor forms of gynecomastia were rare, with 1,2% (95% CI 0,0; 3,0) of cases. In 30% (95% CI 22,9; 37,1) of men, gynecomastia was due to the intake of anabolic steroids for athletic stimulation. In 11,2% (95% CI 6,4; 16,1) of patients, gynecomastia was hepatogenic. In 7,5% (95% CI 3,4; 11,6), it was due to elevated sex hormone binding globulin. 47,5% (95% CI 39,8; 55,2) were endocrine non-tumorigenic form of gynecomastia due to excess body weight with formation of changes in sex hormone levels. The patients who took anabolic steroids were characterized by young age, as well as decreased luteinizing hormone levels and increased testosterone levels. The group of patients with elevated sex hormone binding globulin had no clinically significant features. Men from the group of hepatogenic gynecomastia were characterized by hyperestrogenism. Patients in the group with altered sex hormone levels were characterized by high body mass index and either increased estradiol or decreased testosterone or a combination of both.

Conclusion: The number of adult male patients with acute gynecomastia is progressively increasing. In the examined sample of patients, the main causes of gynecomastia were patients taking anabolic steroids, liver dysfunction and weight gain with the formation of changes in sex hormone levels. Patients taking anabolic steroids were characterized by a drug--induced increase in testosterone and estradiol levels, which was accompanied by suppression of pituitary gonadotropic function. Estradiol elevation was also characteristic of patients with hepatogenic form of gynecomastia and men with excess body weight with formation of changes in sex hormone levels.

The prevalence of cardiovascular diseases (CVDs) is well known. According to the World Health Organization (WHO), almost 18 million people die from CVDs worldwide every year, accounting for 31% of all causes of death [1]. CVDs often develop concomitantly with diabetes mellitus (DM), with approximately 20% of cardiovascular deaths attributed to elevated blood glucose levels [2]. Notably, CVDs are the leading cause of death among patients with type 2 diabetes (T2DM). Based on data from the Federal Register of Diabetes 2022 in Russia, chronic heart failure was the direct cause of death in 24.2% of T2DM cases, followed by acute heart failure (13.1%), cerebrovascular events (10.0%), and myocardial infarction (3.7%) [3].The pathophysiological interplay between atherosclerotic cardiovascular disease and DM has led to a situation where cardiologists are increasingly involved in the treatment of patients with DM, while endocrinologists are encountering a growing number of patients with CVDs. This association has become so apparent that in a recent article published in the European Journal of Cardiology, Yu. Braunwald speculated about the emergence of a new subspecialty - diabetocardiology [4]. Unfortunately, experts predict that the global number of diabetic patients will reach 783 million [5].Recent data on the CV benefits of certain hypoglycemic drugs (primarily, certain SGLT2 inhibitors, several GLP-1 receptor agonists, and a novel non-steroidal mineralocorticoid receptor antagonist finerenone) prove the need for a unified interdisciplinary approach to managing CVDs and DM.Given the importance of integrated and coordinated efforts in managing patients with CVD and DM, the Task Force of the -European Society of Cardiology (ESC) updated, formulated, and published clinical guidelines on the treatment of CVD in diabetic patients in 2023 [6]. This article provides a concise overview of the key provisions outlined in the guidelines.

Obesity is a chronic disease, heterogeneous in etiology and clinical manifestations, progressing with a natural course, characterized by excessive deposition of fat mass in the body. This pathological condition has taken on the scale of a global epidemic in recent years, which continues to progress steadily, currently affecting more than 2 billion people worldwide. Due to its heterogeneity, obesity has a negative impact on the work of almost all organs and systems of the body, contributing to the emergence of new concomitant diseases and pathological conditions that significantly worsen the quality of life of these patients. Thus, a close relationship between type 2 diabetes mellitus and cognitive impairment has long been known, as well as with a number of other somatic diseases: coronary heart disease, atherosclerosis, non-alcoholic fatty liver disease, dyslipidemia, malignant neoplasms and other associated pathological conditions against the background of overweight and obesity.Currently, the problem of the relationship of cognitive impairment in patients with overweight or changes in the glycemic profile is very relevant, due to the high prevalence and insufficient study of this issue.

Background: The prevalence of obesity is rising dramatically worldwide. Recently, there is increasing evidence linking obesity with the functional state of the intestinal microbiota. The understanding of this relationship may provide new approaches to the treatment of obesity by manipulating the qualitative and quantitative parameters of intestinal bacterial-fungal associations.

Aim: To study the features of the qualitative and quantitative composition of the colon microbiota and to evaluate associations with anamnestic, anthropometric and biochemical parameters in young obese patients.

Materials and methods: A single-center, cross-sectional, single-stage, controlled study was conducted with the participation of 118 young people, of whom 87 were obese, and 31 people with normal body weight formed the control group. All participants underwent a biochemical blood test (total cholesterol, high-density lipoproteins, low-density lipoproteins, very low-density lipoproteins, triglycerides, uric acid, glucose, glycated hemoglobin, C-reactive protein), as well as an assessment of the state of the colon microbiota using polymerase chain reaction in real time using a set of Colonoflor-16 (premium) reagents. The Microsoft Excel 2010 and IBM SPSS Statistics 26.0 application software package was used for statistical calculations. The results were evaluated as statistically significant at a level of p<0.05.

Results: Analyzing the result of Colonoflor-16 premium, the discrepancy between the obtained data of the control group and the reference values of the analysis was revealed. There was a clear tendency to decrease the content of Lactobacillus spp and Bifidobacterium spp in the obesity group. In addition, in comparison with the control group (10.3%), in the obesity group Fusobacterium nucleatum significantly prevailed (37.6%) (p=0.005), with a significant decrease in the bacteria Faecalibacterium prausnitzii (p=0.030), and an increase in the bacteria Prevotella spp (p=0.029). A lot of associations of representatives of the colon microbiota with the most important anamnestic, anthropometric and biochemical parameters were revealed in young obese patients.

Conclusion: There is a redistribution of microbiota phylotypes characterized by a decrease in apathogenic microorganisms and the appearance and increase of opportunistic and pathogenic microorganisms, which generally indicates the formation of the pro-inflammatory potential of dominants and associates in young obese patients. The presence of statistically significant correlations strongly indicates of existence of close and diverse relationships between the quantitative and qualitative parameters of the microbiota and the metabolic parameters of patients.

Polycystic Ovary Syndrome (PCOS) - is a polygenic endocrine disorder caused by genetic, hormonal, and epigenetic factors. The importance of addressing PCOS lies in its prevalence, affecting approximately 10 to 13% of women, as well as the associated health conditions that can have a negative impact on women's lives, including infertility, dermatological manifestations of hyperandrogenism (such as hirsutism and acne), cardiovascular pathologies, metabolic disorders, and psychoemotional disorders. Currently, many theories of the development of this disease have been proposed, and as a consequence of methods of influencing and treating it. According to the clinical recommendations of the Ministry of Health of the Russian Federation, modifying the patient's lifestyle forms the basis of comprehensive therapy. We have analyzed about 60 articles on various dietary approaches to the treatment of PCOS, sourced from PubMed, Nature Reviews, Oxford Academic, Clinical Nutrition, EJOG, ScienceDirect, and MDPI. The Mediterranean diet, the DASH diet, the ketogenic diet and the low-carb diet have proven themselves the best. Also, it's necessary to add vitamin D, E, folic acid, calcium, various pro- and prebiotics to a woman's diet. Currently, the use of inositol and GPP-1 is becoming a promising method of PCOS therapy. According to the results of the analysis, a positive effect of diet therapy on the anthropometric and biochemical parameters was noted. Based on the analysis, a positive effect of diet therapy on anthropometric and biochemical parameters has been observed. It is crucial to consider the individual characteristics of each patient and not rely solely on drug therapy when approaching the treatment of PCOS.

The number of patients with diabetes mellitus (DM) has been progressively increasing worldwide over the past decades, and many international organizations consider DM as a public health emergency of the 21st century.Critical limb ischemia (CLI) is the most severe stage of peripheral arterial disease (PAD) in DM and is characterized by a high risk of limb loss without revascularization. Traditional treatment tactics include open and endovascular revascularization surgical techniques. However, in patients not eligible for revascularization and in cases where performed surgical treatment performed has been ineffective, there are almost no therapeutic alternatives, often leading to amputations and death. As of today, one of the newest non-surgical treatment options is cell therapy. Among different cells, mesenchymal stromal cells (MSCs) are potentially one of the most prospective for use in this patient population.This article provides an overview of clinical trials using cell therapy in patients with CLI.To analyze publications, electronic databases PubMed, SCOPUS, ClinicalTrials, and ScienceDirect were searched to identify published data from clinical trials, research studies, and review articles on cell therapy for critical lower extremity ischemia. After the search, 489 results were received.As a result of systematic selection, 22 clinical trials were analyzed.According to the analyzed literature data, the use of cell products in this category of patients is effective and safe. Cell therapy can stimulate the formation of new vessels and enhances collateral circulation; it is also reported improved distal perfusion, increased pain-free walking distance, decreased amputation rates, and increased survival rates.Nevertheless, further study of the potential use of this category of drugs is needed.

Background: Poor adherence to treatment among patients with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) hinders the effective use of antidiabetic agents and the achievement of optimal glycemic control, reducing their quality of life and outcomes. Assessing adherence to treatment using a questionnaire can help identify and eliminate factors and barriers that negatively affect adherence to medical recommendations and satisfaction with treatment.

Aim: To conduct linguistic and cultural adaptation of the 12-item Medication Adherence Scale (MAS-12) questionnaire and evaluate the psychometric properties of the Russian version of the MAS-12 questionnaire among patients suffering from T1DM and T2DM.

Materials and methods: A survey of 198 patients with T1DM and T2DM was carried out, including self-completion of the MAS-12 questionnaire in Russian. Average age: 47.1±18.62 years, proportion of women - 76%. Average duration of the disease: 13.08±10.05 years. The construct validity of the MAS-12 questionnaire was assessed using confirmatory factor analysis. As an external criterion for assessing convergent validity, the KOP-25 method was used - the Russian Questionnaire for Quantitative Assessment of Treatment Adherence (KOP-25). Reliability of the MAS-12 was assessed using Cronbach's α internal consistency and participant retest after 1 to 4 months.

Results: The factor structure of the MAS-12 questionnaire is reproduced for the first time on a Russian sample of patients with diabetes. Recommended fit indicators for the measurement model (CFI=0.983, RMSEA=0.049, TLI=0.968) were achieved by excluding two items (9 and 12) that did not demonstrate statistically significant contributions to their respective subscales. The internal consistency of the subscales (α ϵ [0.522; 0.857]) and the questionnaire as a whole (α=0.766) was assessed as sufficient. Significant correlations of the adapted methodology and its subscales with the scales of the KOP-25 questionnaire were obtained. The closest connections (r ϵ [0.333; 0.431], p<0.010) are observed with the COP-25 scales related to drug therapy, which indicates good external validity of the adapted methodology.

Conclusion: The Russian version of the MAS-12 questionnaire "Questionnaire for assessing adherence to medication treatment" (PML-10), consisting of 10 questions, has good psychometric properties, is a valid and reliable tool for assessing medication adherence among patients with T1DM and T2DM and can be recommended for use in clinical practice, including for monitoring treatment adherence in Russia.

According to numerous studies, the most common pituitary tumors are prolactinomas, reaching 60% of all clinically significant adenomas, the next in order are non-functional pituitary adenomas, somatotropinomas, corticotropinomas and thyrotropinomas. Plurigormonal tumors occur in less than 1% of all pituitary adenomas. The most common form of mixed secretion adenoma in this patient population, derived from the Pit-1 cell line, produces various combinations of hormones: growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH). This article presents a patient with a plurihormonal two-component pituitary macroadenoma with a rare and exceptional combination of secreted hormones - GH / adrenocorticotropic hormone (ACTH) / TSH / follicle-stimulating hormone (FSH) / luteinizing hormone (LH) with minimal nonspecific clinical manifestations such as diabetes mellitus and poorly controlled arterial hypertension.