Problemy endokrinologii最新文献

A woman spends more than a third of her life in a state of deficiency of female sex hormones. According to WHO, in most countries of the world the life expectancy of women after 50 years fluctuates between 27 and 32 years. Every year the number of women entering the menopause period increases. In 1990, 467 million were in the postmenopause period, by 2030 the number will reach 1.2 billion. Menopause, not being a disease itself, leads to a violation of the endocrine balance in the body, causing not only «classic» problems in life (vasomotor symptoms, psychological health disorders, urogenital disorders, osteoporosis, cardiovascular diseases), but also changes the appearance of women - the dermatological status of the patient is worse than the age group. The article presents modern data on rational MHT. Particular attention is paid to the issues of efficacy, tolerability and safety of combined MHT containing estrogen and gestagen, based on the results of current studies and in accordance with the position of national and international clinical guidelines. A clinical case is used to demonstrate the tactics of managing a woman in menopause.

Cushing's disease (CD) is the leading form (75-80%) of the endogenous hypercortisolism (EH) in adolescents. Despite the obvious clinical manifestations, the diagnosis of CD is complicated because of the need of several research methods, the risk of false-positive and false-negative results, difficulties in interpretation and the low percentage of MR-imaging in children. The present patient had noted excessive weight gain since the age of 10 years, a decrease in growth rate was detected retrospectively, absolute short stature developed by the age of 14.5 years. An examination at the age of 15 revealed an inversion of the circadian cortisol rhythm (9:00 378.4 nmol/l, 23:00 598.9 nmol/l), an increase in the cortisol level in saliva at 23:00 (20.32 nmol/l) and excretion in urine (981.5 mcg/day). The overnight dexamethasone test (ODT) was positive (cortisol 44.26 nmol/l), ACTH was in the "gray zone" (22.19 pg/ml). MRI with contrast showed signs of a heterogeneous pituitary gland structure. When patient was re-examined at 15.5 years the inversion of the circadian rhythm of cortisol was accompanied by absolute hypercortisolemia (9:00 843.4 nmol/l, 23:00 929.4 nmol/l), ODT became negative (cortisol 235 nmol/l), ACTH level remained in the "gray zone" (25.1 pg/ml). MRI with contrast showed pituitary adenoma 6×4 mm. An ACTH level gradient between the left inferior petrosal sinus and peripheral blood of 13.3 confirmed CD. After transsphenoidal adenomectomy, a cortisol level of 39.4 nmol/l indicated remission with a low risk of relapse; subsequently a reverse development of EH symptoms were noted. Postoperative diabetes insipidus and primary hypothyroidism required replacement therapy.

Cortisol-induced dilated cardiomyopathy (CI-DCM) is a rare manifestation of endogenous hypercortisolism (EH). Optimal management of patients with CI-DCM is a major challenge due to the rarity of the pathology and the lack of expert community guidelines. This article describes a case of successful management of a patient with ACTH-secreting pituitary tumor and CI-DCM.A 44-year-old patient was hospitalized with symptoms of chronic heart failure (CHF) and EH. The diagnosis of non-ischemic myocardial damage with phenotype of DCM was verified by echocardiography and coronary angiography. According to hormonal and imaging tests, and selective blood sampling from the inferior petrosal sinuses, an ACTH-secreting pituitary adenoma was diagnosed. A transnasal transsphenoidal adenomectomy was planned. Due to the symptoms of CHF and systolo-diastolic dysfunction of the left ventricle (LV), significantly increasing the risk of adverse perioperative cardiac events, the intervention was postponed. Stabilization of the patient's condition was achieved after 4-month therapy with use of betaAB, ACEI, MRA, diuretics, and steroidogenesis inhibitors. Stabilization of the patient's condition allowed to perform transnasal transsphenoidal adenomectomy without perioperative complications, with postoperative decrease of ACTH and cortisol levels. Follow-up examinations demonstrated preservation of eucorticism, regression of CHF symptoms. progressive decrease of LV size/volumes with increase of LVEF.Cortisol hypersecretion can damage myocardium with a phenotype of DCM, with symptoms of CHF being the dominant clinical manifestation of EH. The use of betaAB, ACEI, diuretics, MRA, and steroidogenesis inhibitors is reasonable to control symptoms of CHF and prepare a patient with CI-DCM for surgical intervention. After normalization of cortisol level, regression of CHF symptoms and significant reduction of heart chamber size/volumes with increase of LVEF are noted, which allows to conclude about reversibility of pathologic cardiac remodeling.

Small for gestational age (SGA) refers to the size of an infant at birth, and is defined as a birth weight and/or birth length below the -2.0 SDS for the gestational age. In approximately 10% of cases, SGA is not compensated for in the postnatal period, with the pathogenesis of this condition being attributed to various monogenic syndromes or chromosomal abnormalities. The difficulty in making a pathogenetic diagnosis in this group of patients is due, on the one hand, to the similarity of phenotypic manifestations in the structure of the disease, on the other hand, to the variability of clinical manifestations within a specific syndrome. Conducting various molecular genetic studies is the main method of diagnosing the form of SGA. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is one of the most common genetic variants of SGA, with its phenotypic features including skeletal anomalies and cerebrovascular changes. The disease is caused by biallelic mutations in PCNT gene. This study presents the clinical characteristics of the first patient with microcephalic osteodysplastic primordial dwarfism type II in the Russian Federation. The nucleotide changes detected in the patient have not been previously described in the world literature.

Despite marked improvements in glycemic control in recent years, many patients with type 1 diabetes mellitus (T1DM) do not achieve glycated hemoglobin (HbA1c) targets.Considering the need for regular interaction between a doctor and a patient with T1DM, and taking into account the geographical features of the Russian Federation, the use of telemedicine can help improve the effectiveness of treatment.

Objective:  To evaluate the clinical effectiveness of remote glycemic control using devices for wireless data transmission in children with type 1 diabetes mellitus.

Materials and methods:  Inclusion criteria: Age from 1 to 18 years, diagnosis of T1DM, intensive insulin therapy (through multiple insulin injections or continuous subcutaneous insulin infusion). The duration of the study was 12 months, during which each participant had at least 5 face-to-face consultations and at least 8 remote consultations. Remote monitoring was performed using the OneTouch Reveal (OT Reveal) mobile application.

Results:  A total of 58 patients with T1DM aged 1 to 18 years were included in the study. The HbA1c level during the study period decreased from 7.6% [7.0; 8.7] at baseline to 7.2% [6.5; 8.2] by the end of the study, after 12 months of follow-up (p=0.025). It should be noted that the best glycemic control was observed after 3 months of observation (HbA1c -7.2% [6.5; 8.5], number of children with HbA1c<7.0% - 44% (31-59)). The median % of measurements in the target range from 3.9 to 10.0 mmol/L increased from 51.1% [38.9; 63.6] at baseline to 59.6% [46.9; 69.8] (p=0.03).

Conclusion:  Using a glucose meter in combination with diabetes management software and remote data transfer capabilities is associated with significant improvements in glycemic control in children with T1DM. Further results of clinical testing will allow a more detailed assessment of the effectiveness of this approach, but it can already be said that wider use of these opportunities may improve the availability of medical care and achieve better compensation for many patients with T1DM.

DICER1 syndrome is a rare monogenic disease with autosomal dominant inheritance. DICER1 protein is involved in the regulation of gene expression by microRNAs. Changes in the expression of DICER1 can be associated with various cancers. A 13,8-year-old girl with a history of embryonal rhabdomyosarcoma (ERMS) of uterine cervix and vagina excised at 6 months of age is presented with a thyroid follicular nodular disease (TFND). Molecular genetic examination revealed a heterozygous pathogenic variant p.Arg1003Ter in the DICER1 gene (NM_030621.4). The presented case emphasizes the importance of molecular genetic diagnosis of DICER1 syndrome in a diagnostic algorithm in the management of patients with TFND and history of malignancy. Considering ERMS of genital tract as a probable component of DICER1 syndrome it is necessary to screen for other manifestations of the disease as well.

Floating-Harbor syndrome is an autosomal dominant genetic disorder that is part of a group of growth retardation. The main clinical features of syndrome are short stature, delayed speech development and peculiar facial features: triangular face with a narrow chin, deeply set eyes, a short filter, a macrostomy, a nose with a narrow bridge and wide base and tip, a drooping columella. The syndrome is associated with heterozygous pathogenic variants were truncating and occurred in 33 and 34 exons of SRCAP. Heterogeneity and the absence of specific clinical features complicates the formulation of this diagnosis, which necessitates molecular genetic verification. In this paper, we present the first description of 6 patients with proven Floating-Harbor syndrome in the Russian Federation.