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Kearns-Sayre Syndrome (KSS) is a variant of mitochondrial disorder caused by a Mitochondrial Deoxyribonucleic Acid (mtDNA) deletion. Clinical manifestations of KSS can include different organ and system involvement. Different organ malfunctions, more often cardiac dysfunction, can lead to death. No effective treatment of this condition exists to date. Here, we report two patients with KSS. Female patient with a large-scale deletion of 7,020 base pairs (bp) suffered from hypogonadism, diabetes mellitus with fluctuating glucose levels, and had poor general health. A male patient with a common 4,977 bp deletion did not have diabetes mellitus but had impaired glucose tolerance. He also had a higher level of general health than our female patient. Both patients had reduced Bone Mineral Density (BMD). In female patients, calcium and vitamin D supplementation combined with metabolic therapy and nutritional drink supplements helped increase BMD (up to 32% in L1-L4). Comparing these two patients suggests that the larger the mtDNA deletion is, the more severe the course of the disease is. Not only does the size of the mtDNA deletion probably determine the severity of the disease, but also such factors as mtDNA heteroplasmy level, presence of mtDNA duplications, and pleioplasmy. Moreover, continuous nonconsecutive metabolic therapy and nutritional supplements are helpful in the prevention of deterioration of symptoms and general health.

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.

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.

The article discusses various pathophysiological conditions and processes that lead to the development of tumors in diabetes mellitus. These include obesity, hyperglycemia, hyperinsulinemia, inflammation, and oxidative stress. The data of epidemiological studies are given, in which it was found that diabetes mellitus (both type 1 and type 2) increases the risk of developing the female reproductive system tumors, such as ovarian cancer, endometrial cancer, while for cervical cancer, vaginal cancer and vulvar cancer, such a relationship has not been clearly identified.

SertoliLeydig cell tumor is a rather rare type of ovarian neoplasms belonging to the group of sex cordstromal tumors. This malignancy is characterized by androgen overproduction, which results in the so-called virilization and can be accompanied by various metabolic disorders such as abdominal obesity, disturbances of carbohydrate and protein metabolism, and high blood pressure. During differential diagnosis, it is important to identify the source of androgen overproduction. An androgen-secreting ovarian tumor needs to be differentiated from androgen-secreting adrenal tumor, ovarian stromal thecomatosis (hyperthecosis), and endogenous hypercorticism (the Cushings syndrome). In most cases, the SertoliLeydig cell tumor is associated with DICER1 mutation carriership. If a patient is found to carry the DICER1 mutation, patients relatives need to undergo genetic testing as the individuals with mutations in this gene have an elevated risk of developing a broad range of benign and malignant tumors (most of these tumors are relatively rare in the overall population). The awareness of this rare ovarian neoplasm among medical specialists (obstetriciansgynecologists, endocrinologists, and oncologists) is supposed to ensure timely diagnosis and adequate treatment of this disease.

Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis nigricans, dyslipidemia, hepatic steatosis, hypertension, and polycystic ovary syndrome. The laminopathy variant familial partial lipodystrophy type 2 or Dunnigan syndrome (FPLD2) is the most common cause of partial LD. The paper describes a family (3 clinical cases) with FPLD2 caused by heterozygous R482W missense mutations in the gene encoding the protein lamin A/C (LMNA; 150330). This observation demonstrates that specialists should be more aware of this disease and make a timely diagnose in cases of concurrent severe metabolic disturbances at a young age, which contributes to more effective treatment of patients and to medical genetic counseling of their families.

Integrated clinical and economic analysis of the efficiency of screening was made in patients with adrenal incidentalomas under the established practical conditions; the average cost of screening of a patient with adrenal incidentalomas and the cost of one detected case were determined under these conditions. Based on the clinical and economic analysis, the authors have elaborated and scientifically substantiated an algorithm for screening of patients with adrenal incidentalomas, the use of which will permit, with high clinical efficacy, a significant reduction in the cost of screening.