BACKGROUND: Therapy for type 1 diabetes mellitus (T1DM) is still largely an unsolved clinical problem. Despite the introduction into clinical practice of modern insulin preparations, devices for its administration, as well as continuous monitoring of glucose levels, the goals of therapy are often not achieved. At the same time, the International Diabetes Federation (IDF) notes an increase in the prevalence and incidence of T1DM in children and adolescents in the world. The Federal Register of Diabetes Mellitus (FRDM) is a dynamically updated database of patients with diabetes, which allows assessing prevalence and incidence rates, achievement of glycemic control goals and the incidence of diabetes complications.AIM: analyze the epidemiological data of T1DM (prevalence, morbidity) in children and adolescents (patients from birth to 18 years of age) in Moscow according to the FRSD data and to assess their dynamics, as well as the dynamics of achieving the goals of glycemic control and the incidence of T1DM complications in 2015-2020.MATERIALS AND METHODS: The object of the study is a sample from the database of the Moscow segment of the FRDM of a cohort of patients with type 1 diabetes under 18 years of age who were registered for the period 01.01.2015-01.01.2021. Epidemiological prevalence and incidence rates are calculated per 100,000 of the relevant population.RESULTS: the number of children and adolescents with type 1 diabetes in Moscow as of 01.01.2021 was 4024 people (2962 children and 1062 adolescents). Over the period from 2015 to 2020, there was an increase in the prevalence of T1DM (possibly due to an increase in the quality of data registration in the FRSD) and a decrease in the incidence of both children and adolescents. There was also a decrease in the level of HbA1c and the proportion of patients with HbAc1> 8.0% among children with T1DM. Both children and adolescents with T1DM showed a decrease in the incidence of diabetic coma and ketoacidosis with a simultaneous increase in the incidence of severe hypoglycemia, as well as a decrease in the incidence of retinopathy and nephropathy. However, the incidence of neuropathy decreased among children and increased among adolescents.CONCLUSION: The data obtained on the dynamic management of adolescents with T1DM are the basis for considering the development of a profile program for their dynamic observation, taking into account the need for psychological and social support for patients and their families.

Disorders of sex development (DSD) represent a group of congenital conditions in which there is a discrepancy between the chromosomal and (or) gonadal sex and the structure of the genitals. Within the DSD there is a subgroup of 46,XX testicular DSD (46,XX TDSD), which may be caused by the translocation of the SRY gene, and more rarely — due to other causes (SRY-negative forms). In this report, we present an observation of a patient with SRY-negative 46,XX TDSD, in whom the condition was initially regarded as a virile form of congenital adrenal hyperplasia, then as idiopathic intrauterine virilization in a girl. Due to the development of virilization at the age of 11, the presence of testicular tissue was suspected. Molecular genetic analysis (whole exome sequencing with Sanger validation) revealed a de novo variant in exon 9 of the WT1 gene (chr11:32413528T>C), which, according to predictions, did not lead to a change in the amino acid sequence (p.Thr479=, NM_024426.6), but disrupted splicing, resulting in a previously described in 46,XX TDSD a change in the C-terminal domain of WT1. After verification of the diagnosis, a gonadectomy was performed and estrogen replacement therapy was prescribed. Thus, we have described a patient with a rare form of 46,XX TDSD caused by a variant in the WT1 gene. The presented observation illustrates the difficulties of differential diagnosis of intrauterine virilization syndrome in female karyotype.

Background. Due to the rarity of the combination of emergence diabetes mellitus type 1 (DM1), COVID-19, and multisystem inflammatory syndrome, each reported case represents valuable experience and increases the awareness of medical professionals. Clinical case description. A 7-year-old boy was admitted to the intensive care unit with a diagnosis of diabetes mellitus type 1, first identified. On day 2, ketoacidotic coma with a hyperosmolar component developed, a positive polymerase chain reaction (PCR) test for SARS-CoV-2 was obtained, and a picture of subarachnoid hemorrhage was described according to CT scans of the brain. On day 3, macrohematuria, peripheral edema, pasty complexion were noted; the clinical picture and laboratory examination data corresponded to a “cytokine storm” with the development of multiple organ failure. On day 5, tonic-clonic seizures and bloody discharge from the nasopharynx were noted. On day 6, a negative PCR test for SARS-CoV-2 was obtained, on chest X-rays there was a heterogeneous decrease in pneumatization in the basal sections on both sides, and bilateral hydrothorax. On day 9, meningeal symptoms were noted. On day 14, a repeated episode of a convulsive attack was registered, and changes in the brain according to MRI results were regarded as an inflammatory demyelinating lesion against the background of the course of multisystem inflammatory syndrome and DM or as posterior reversible encephalopathy (PRES syndrome). Against the background of the appointment of immunomodulatory, anticoagulant, antibacterial, antiviral therapy, positive dynamics was noted in the child's condition. On day 18, the patient in a stable condition of moderate severity was transferred to the Department of Pediatric Endocrinology for further treatment. After 14 days, the child was discharged from the hospital in a satisfactory condition. Conclusion. This case report may confirm the risk of developing multisystem inflammatory syndrome in children with DM1 and COVID-19, which requires an interdisciplinary approach and the appointment of therapy included in the standards of management of children with multisystem inflammatory syndrome.

Growth retardation for more than 2 SD below the average population or presumed familial target height is classified as a short stature and may be a clinical manifestation of a large number of disorders. The use of the latest methods of molecular genetic analysis in recent years has allowed for a better understanding of the pathogenesis of inherited forms of a short stature. One of the recently discovered mechanisms of this pathology was monoallelic mutations in RPL13 gene, leading to the development of Isidor-Toutain type spondyloepimetaphyseal dysplasia (SEDM). Characteristic phenotypic features for this form are normal birth length, early postnatal growth deficiency, platyspondyly, proximal femoral epiphyseal changes, coxa vara, genu varum. This study presents the clinical and radiological characteristics of the first patient in the Russian ­Federation with SEMD caused by a mutation in RPL13 gene.