Vol 96, No 10 (2024): Вопросы эндокринологии

The article presents modern data on the etiology, pathogenesis, diagnosis and treatment of autoimmune and iodine deficiency diseases in the context of possible associations with other autoimmune and non-autoimmune somatic pathologies. Diseases of the thyroid gland (TG) are presented in the form of a “signal pathology” that requires the attention of doctors; the issues of the syndrome of multiple autoimmune lesions are considered, an obligatory component of which is a disease of the TG, most often autoimmune. Data are provided on the possible relationship between autoimmune, iodine deficiency and tumor diseases of the TG from the point of view of common mechanisms of pathogenesis and mutual influences. Emphasis is placed on the clinical manifestations of thyrotoxicosis and hypothyroidism, their effects on the cardiovascular system, and their connection with the course of rheumatic and other diseases. The importance of personalizing the diagnosis of TG pathology and the mandatory exclusion of possible associated diseases is shown.

Aim. To study the immediate efficacy, tolerability and predictors of response to prolonged-acting somatostatin analogues (SSAs) in patients with ectopic ACTH syndrome (EAS).

Materials and methods. A multicenter, observational study with a retrospective analysis. The effectiveness of treatment was evaluated every 12–24 weeks by the activity of hypercortisolism, clinical symptoms of the disease, control of tumor growth. Patients were conditionally divided into “responders” and “non-responders” at time points of 6, 12 and 24 months. Radiological efficacy was performed according to the RECIST 1.1. Statistical data processing was carried out by using IBM SPSS Statistics 23.

Results. The study included 46 patients (26 women, 20 men). The median follow-up period was 71 months [32; 122]. Localized tumor process (T1-3N0M0) – in 19 (41.3%) patients, locally widespread (T1-3N1M0, T4N0-1M0) – in 15 (32.6%), generalized (T1-4N0-1M1) – in 12 (26.1%) cases. Surgical treatment was performed in 33 (71.7%) patients. SSAs were the first-line therapy for all 46 patients. The average duration of SSAs use was 34 months (Me 27.5 [13.8; 41]). Dose escalation was required in 39.4% cases, the period before the first dose escalation was on average 9 months. 13 (48.1%) patients achieved drug-induced remission of the disease. Normalization of cortisol in 24hUFC or its decrease ≥50% from the baseline level by the 6th month of treatment was achieved in 46.4%, by the 12th month – in 61.9%, “eluding” from the effect of therapy was observed in 3 patients. Objective response was evaluated in 30 patients. There was no complete response to the treatment. In 4 (13.3%) cases – a partial response, in 15 (50%) – disease stabilization, in 11 (36.7%) – disease progression. The best therapeutic efficacy of SSAs is associated with bronchial NET (HR 0.078, 95% CI 0.010–0.633; p=0.017), and resistance to treatment is associated with negative expression of SSTR5 (HR 6.532, 95% CI 1.019–41.878; p=0.048).

Conclusion. SSAs are the drugs of choice for the first-line treatment of patients with EAS, allowing for long-term effective control of hypercortisolism and tumor progression in more than 60% of patients. Significant factors determining the response to SSAs after 6 months of treatment are expression status of SSTR5 and NET localization.

Aim. To determine the incidence of interstitial myocardial fibrosis (MF) in acromegaly, which leads to the development of cardiac arrhythmias and conduction disorders.

Materials and methods. A single-center study was conducted, including 70 patients with acromegaly. All patients underwent standard medical examinations, including hormonal blood tests, electrocardiograms, echocardiography, Holter monitoring electrocardiograms and magnetic resonance imaging (MRI) of the heart with gadolinium contrast, additionally 48 patients underwent T1-mapping, which is an MRI method that allows the detection of diffuse changes by measuring the values of myocardial relaxation time – T1.

Results. The study revealed a high incidence of MF – 53 (75.7%) cases (21 women, 32 men). The duration of the disease was found to be critical for myocardial remodeling (p=0.006). Compliance criteria for the T1-mapping technique were determined, with reduced T1-mapping values observed in 85.2% of cases. The ROC analysis (Receiver Operator Characteristic) determined the diagnostic value of post-contrast T1-mapping: AUC (Area Under the Curve)=0.906 (95% confidence interval 0.789–1.000), a sensitivity of 90%, and a specificity of 76.5%, indicating high diagnostic efficiency. According to the Youden index, a cut-off point of 372.5 ms was selected.

Conclusion. Myocardial T1-mapping is a novel MRI method that allows to assess the degree of MF without the need for myocardial biopsy. The obtained information is crucial for the diagnosis and prognostic assessment of heart diseases, particularly in cases of hypertrophic cardiomyopathy or infiltrative diseases. The T1-mapping method, which is actively developing, can serve as a marker for early diffuse myocardial fibrosis and help determine the prognosis for patients with acromegalic cardiomyopathy.

Acromegaly is a chronic endocrine disease characterized by excessive secretion of growth hormone, which, in turn, leads to an increase in the secretion of insulin-like growth factor 1 in the liver. The targets for these hormones are most of the cells in our body. Excess growth hormone (in the vast majority of cases caused by hormone-producing pituitary adenoma – somatotropinoma), insulin-like growth factor leads to cellular, and tissue growth of almost all organs and systems, including the osteoarticular apparatus. Diagnosis of the disease in the early stages is often difficult and is established 5–10 years after the onset of symptoms, that leads to various complications and disability of patients. Often joint pain is the first manifestation of acromegaly. Damage to the musculoskeletal system causes a significant deterioration in the quality of life even when long-term stable remission of the underlying disease is achieved. In the article a clinical case with the peculiarities of diagnosing rheumatic disease in acromegaly is presented. A patient aged 56 years was diagnosed with acromegaly based on clinical and laboratory data, and a month later she underwent transnasal adenomectomy. However, Endocrinology Research Centre drew attention to the patient's complaints of pain in large joints, and therefore she was referred for a consultation to a rheumatologist at the Nasonova Research Institute of Rheumatology. As part of the examination, an increase in the titer of the antinuclear factor (1/2560) and the level of antibodies to ribonucleoprotein was revealed, which is most typical for mixed connective tissue disease. Treatment was prescribed and dynamic monitoring is being carried out.

Allgrove syndrome is a rare autosomal recessive disorder characterized by the achalasia, alacrimia, adrenal insufficiency, which gave the additional and more recognizable name of this pathology – “Triple-A syndrome”. The clinical presentation of classical signs and symptoms of the syndrome is dependent on the age of the patient. Ophthalmological abnormalities are usually present at birth, whereas adrenal and gastrointestinal abnormalities are apparent after six months to the first decade of life. Neurological dysfunction from the involvement of central or autonomic nervous systems is also common with Allgrove syndrome observed during the adolescent period. Genetic analysis and detection of the AAAS gene mutation is the main step in the diagnosis of the syndrome. The presented clinical case will demonstrate the difficulties in making a diagnosis, choosing a treatment strategy for a patient with a long history of Allgrove syndrome.

The question of effective ways to treat obesity in people of different ages inevitably affects nutritional principles. Currently, intermittent fasting is of particular interest. There are several variants of intermittent fasting, the common feature of which is periodic temporary breaks in food intake. This review assessed the results of studies on the effectiveness of such a restrictive diet in patients with various pathologies.

On May 22, 2024, an Interdisciplinary Expert Council, "A new chapter in the treatment of vitamin D deficiency and insufficiency: 50,000 IU in one matrix tablet – discovering the potential together", was held in Moscow, dedicated to the advantages and features of the innovative high-dose vitamin D recently launched on the Russian market (Devilam 5000 and 50,000 IU in one matrix tablet), with the participation of leading experts of various medical specialties. During the Council, new opportunities for the use of high-dose vitamin D in comorbid patients in need of rapid and effective correction of preexisting vitamin D deficiency or insufficiency were discussed.

The article is dedicated to the 90th year of the birth of Professor Mikhail Ivanovich Balabolkin. He was a well-known endocrinologist, Doctor of Medical Science, Director of the Institute of Diabetes of The National Medical Research Center for Endocrinology of the Russian Academy of Medical Sciences, Head of the Departments of Endocrinology at the Moscow Medical and Dental Institute named after N.A. Semashko, and subsequently at the Moscow Medical Academy named after I. M. Sechenov. Mikhail Ivanovich will forever remain in the memory of all his students and colleagues. The article contains not only biographical data on the professor’s professional and scientific activities, the history of the creation of the departments of endocrinology, which he headed, but also memories of people who were well acquainted with Mikhail Ivanovich. Particular attention in the article is paid to the personal qualities of M.I. Balabolkin, his family, attitude towards his professional team and hobbies.