In recent years, there has been a significant increase in the prevalence of autoimmune endocrinopathies, which are known to affect various levels of the endocrine system, including the pituitary gland. Hypophysitis is a general term used to describe any form of sellar and suprasellar inflammation that leads to structural changes in the hypothalamic-pituitary region and manifests itself in varying degrees of hormonal deficiency of the anterior and posterior pituitary glands. To date, there is a primary form of hypophysitis, which occurs as a result of an autoimmune lesion directly to the pituitary gland, and a secondary form of hypophysitis, which occurs as a result of the presence of a systemic autoimmune disease. Regardless of the etiology, patients with hypophysitis show various signs and symptoms caused by an inflammatory process in the pituitary gland, which can lead to the development of hypopituitarism, compression of the sellar and parasellar structures. MRI is currently the best non-invasive diagnostic tool for diagnosing hypopituitarism, however, the diagnosis can be made with certainty only by histological examination of the pituitary tissue, which requires an invasive approach, which greatly reduces the feasibility of this procedure. In this article, we present a patient with MRI showing signs of hypophysitis in the absence of clear clinical symptoms.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

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.

Background. Type 1 diabetes mellitus (DM 1) disrupts all types of metabolism, especially carbohydrate and lipid ones, leading to many complications. The most serious DM complication is damage to the cardiovascular system (CVS). Prolonged preclinical changes precede the development of pathological processes in the CVS. One of the earliest manifestations of cardiovascular system dysfunction is myocardial remodeling. In patients with DM 1, myocardial remodeling is diagnosed using echocardiography. However, the examination algorithm does not include echocardiography for young patients with DM 1 without evident cardiovascular diseases (CVD). The state of the heart's extracellular matrix and the presence of fibrotic changes in it are actively studied as a marker of changes in the CVS at the preclinical stage. Assessment of the presence of fibrosis foci is available during echocardiography; however, it is generally relevant for patients with DM 1 with pre-existing CVD. The initial formation of diffuse fibrosis (DF) of the myocardium in patients with DM without diagnosed CVD can be verified by magnetic resonance imaging (MRI) of the heart. Given that DF increases the risk of life-threatening arrhythmias and significantly increases the risk of sudden cardiac death in young patients with DM 1, it is necessary to revise the strategy of primary prevention of CVD for patients in this population. Aim. To assess the CVS structural and functional state in young patients with DM 1 without CVD according to echocardiography and MRI of the heart using T1 mapping. To determine the presence and instrumental imaging options of fibrous tissue in the myocardium without laboratory markers of its formation in young DM 1 patients without CVD. Materials and methods. The study included 110 participants without CVD and obesity: 80 patients with DM 1 (mean age 26 years) and 30 patients in the comparison group without DM (mean age 27 years). All participants underwent a general clinical examination, bioelectrical impedance analysis, electrocardiography, echocardiography, and cardiac MRI with T1 mapping. Conclusion. DF of the myocardium was detected using heart MRI in 8.7% of young patients with DM 1. In healthy peers, these changes in the myocardium were not detected. The group of patients with DM 1 and DF of the myocardium had a longer duration of the disease (8 years vs 5 years) and more severe initial structural changes in the myocardium (according to echocardiography) compared to patients with DM 1 without myocardial fibrosis. In the presence of initial signs of myocardial remodeling in patients with DM 1, it is advisable to conduct a heart MRI to exclude the DF formation.

Background: The rarity and variability of MEN1-related primary hyperparathyroidism (mPHPT) has led to contradictory data regarding the bone phenotype in this patient population. Methods: A single-center retrospective study was conducted among young age- and sex-matched patients with mPHPT and sporadic hyperparathyroidism (sPHPT). The main parameters of calcium-phosphorus metabolism, bone remodeling markers, and bone mineral density (BMD) measurements were obtained during the active phase of hyperparathyroidism before parathyroidectomy (PTE) and 1 year after. Trabecular Bone Score (TBS) and 3D-DXA analysis of the proximal femur were used to evaluate the differences in bone architecture disruption between groups. Results: Patients with mPHPT had significant lower preoperative BMD compared to sPHPT at lumbar spine-LS (p = 0.002); femur neck-FN (p = 0.001); and total hip-TH (p = 0.002). 3D-DXA analysis showed the prevalence of cortical rather than trabecular bone damage in mPHPT compared to sPHPT: cortical thickness (p < 0.001); cortical surface BMD (p = 0.001); cortical volumetric BMD (p = 0.007); and trabecular volumetric BMD (p = 0.029). One year after, PTE DXA and 3D-DXA parameters were similar between groups, while 3D-visualisation showed more extensive regeneration in cortical sBMD and cortical thickness in mPHPT. Conclusions: mPHPT is associated with lower preoperative BMD values with predominant architecture disruption in the cortical bone. The absence of differences in DXA and 3D-DXA parameters 1 year after PTE between mPHPT/sPHPT combined with significantly lower BMD in mPHPT at the initial stage may indicate faster bone recovery after surgery in mPHPT than in sPHPT.

The most common causes of death in acromegaly are cardiovascular diseases (about 60%). Heart arrhythmias and conduction disorders lead to sudden cardiac death (SCD). In this article, we described a clinical case about preventing SCD in a patient with acromegaly. We identified in this patient predictors of SCD: severe left ventricular hypertrophy, the signs of myocardial fibrosis, decreased systolic function of the left ventricular myocardium, ventricular rhythm disturbances, and heart failure. Patients with acromegaly have higher risk of heart arrhythmias due to development acromegalic cardiomyopathy with includes: left ventricular hypertrophy, diastolic and systolic dysfunction, myocardial fibrosis and electrical disturbances of the myocardium. The main limitation is the lack of special clinical recommendations for the management of this group of patients. Current recommendations based on a standard algorithm and do not consider specificity of acromegalic cardiomyopathy.

Acromegaly is a rare neuroendocrine disease caused by excessive production of growth hormone (GH), which acts as a trigger for cartilage tissue destruction leading to joint damage.Patients with acromegaly, especially in the active stage, often complain of joint pain in various locations. Joint pain can be one of the first symptoms of the disease, the intensity of which worsens without proper treatment. Increased production of GH leads to configuration changes in the joints, which in turn trigger destructive processes typical of degenerative diseases such as osteoarthritis. Despite successful treatment of acromegaly, joint-related issues can persist and significantly worsen the quality of life for patients. In this regard, the search for potential markers of early joint involvement in acromegaly is relevant for use in predicting the severity of arthropathy progression and monitoring this cohort of patients.This review provides a general overview of the effects of growth hormone on cartilage tissue, the characteristics of musculoskeletal pathology in patients with acromegaly and possible markers associated with early joint damage.

Metastatic lesion of pituitary is a rare condition and is diagnosed in 1.8-4% of cases. Monitoring and treatment of such patients is a complex task and requires increased attention from a multidisciplinary team of specialists. The authors represent three patients with metastatic pituitary lesion who underwent neurosurgical treatment at the National Research Center of the National Research Institute of Endocrinology with subsequent pathomorphological confirmation of the diagnosis. The primary tumors were breast cancer, lung carcinoid, and clear cell kidney cancer. Two patients had distant metastases other than the pituitary gland. The clinical manifestation consisted in the appearance of symptoms of panhypopituitarism, chiasmal syndrome and mass effect in all cases. The follow-up period after surgical treatment was 0.25-2.5 years. Progression of the underlying disease was noted in two patients. One of them carried out stereotactic radiosurgical treatment and stereotactic oriented irradiation. One patient has a stable condition.

Endogenous hypercorticism (EH) is a severe symptom complex caused by hypercortisolemia; according to the etiology, ACTH-dependent and ACTH-independent variants are distinguished, which, according to the literature, occur in 70-80% and 20-30% of cases, respectively. A rare cause of ACTH-dependent endogenous hypercorticism is ACTH-ectopic syndrome (ACTH-ES) (about 15-20% of cases). ACTH-ES is a syndrome of adrenocorticotropic hormone (ACTH) hyperproduction by neuroendocrine tumors of extrahypophyseal origin. Various tumors can secrete ACTH: bronchopulmonary carcinoid, small cell lung cancer, less frequently, thymus carcinoid, islet cell tumors and pancreatic carcinoid, medullary thyroid cancer, carcinoid tumors of the intestine, ovaries, as well as pheochromocytoma (PCC).This publication presents a clinical case of rarely detected paraneoplastic ACTH production by pheochromocytoma. The patient had clinical manifestations of hypercorticism, therefore, she applied to the Russian National Research Center of Endocrinology of the Ministry of Health of Russia. During the examination Cushing's syndrome (CS) was confirmed, multispiral computed tomography (MSCT) of the abdominal cavity revealed a voluminous formation of the left adrenal gland. Additional examination recorded a multiple increase in urinary catecholamine levels. Subsequently, the patient underwent left-sided adrenalectomy. The diagnosis of pheochromocytoma was confirmed morphologically, immunohistochemical study demonstrated intensive expression of chromogranin A and ACTH by tumor cells.

ЦЕЛЬ: представление клинического опыта по диагностике, лечению и реабилитации пациентов с опухоль-индуцированной остеомаляцией. МАТЕРИАЛЫ И МЕТОДЫ: в наблюдение были включены 40 пациентов с клинически диагностированной опухоль-индуцированной остеомаляцией, у 34 из которых опухоль была локализована, 27 были прооперированы и 21 достигли стойкой ремиссии. РЕЗУЛЬТАТЫ: медиана возраста составила 48 [41 ; 63] на момент диагностики , 43% мужчины, время от первых симптомов до установления диагноза составило 8 [4 ; 10] лет. Лабораторно у пациентов отмечались гипофосфатемия 0,47 [0,4 ; 0,53] ммоль/л, снижение индекса реабсорбции фосфатов 62 [52 ; 67]%, и повышение щелочной фосфатазы 183 [112 ; 294] Ед/л. На момент установления диагноза 100% имели множественные патологические переломы, передвигаться полностью самостоятельно могли лишь 10%, при этом все испытывали болевой синдром, в том числе 77,5% охарактеризовали боль как нестерпимую (8-10 баллов по 10-балльной шкале). Среди методов, используемых для обнаружения опухолей, самыми чувствительными оказались сцинтиграфия с тектротидом с ОФЭКТ/КТ 71,4% (20/28) и МРТ 90% (18/20). В 35% случаях опухоль была локализована в мягких тканях и в 65% в костной ткани; при этом наиболее часто опухоль выявлялась в нижних конечностях, далее по частоте локализации была голова. Из 40 человек у 18 пациентов, в настоящее время, отсутствует ремиссия и пациенты получают консервативное лечение (препараты фосфора и альфакальцидол n=15 и бурозумаб n=3). В случае достижения ремиссии (n=21), наблюдался регресс клинической симптоматики и восстановление костной и мышечной масс. Широкое иссечение опухоли без предварительной биопсии приводило к наилучшему проценту ремиссии 87%. ВЫВОДЫ: опухоль-индуцированная остеомаляция наиболее часто встречается у лиц средней возрастной группы, характеризуется тяжёлым поражением костной и мышечной ткани с развитием множественных переломов, мышечной слабости и выраженного болевого синдрома. При лабораторной диагностике следует обращать внимание на гипофосфатемию, снижение индекса реабсорбции фосфатов и повышенную щелочную фосфатазу. Применение методов функциональной диагностики с меченным аналогом соматостатина к рецептору 2 подтипа и МРТ нижних конечностей и головы с контрастным усилением являются наиболее точными методами топической диагностики. В случае локализации опухоли рекомендуется широкое иссечение без предварительной биопсии.

The study of the genetic aspects of endocrine diseases is based on the aspiration to develop the methods of early diagnosis, treatment and observation of patients. Von Hippel-Lindau syndrome is genetically determined disease characterized by damage of various organs and systems. The article presents a clinical case of treatment of a patient with retinal detachment who was first admitted to the surgical department of the Federal State Budgetary Institution «NMIC of Endocrinology» of the Ministry of Health of Russia with complaints of dry mouth, general weakness. Further examination, revealed pathological changes in the adrenal glands, kidneys, brain, pancreas, spleen, spinal cord. The presented clinical case demonstrates the need for a multidisciplinary approach to the management of patients with von Hippel-Lindau syndrome.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Акромегалия – орфанное нейроэндокринное заболевание, приводящее к разрастанию всех тканей вследствие воздействия гиперпродукции гормона роста (ГР). Изменения лица включают в себя деформацию, увеличение объема костной ткани в области надбровных дуг, нередко увеличение носа (гипертрофию хрящей концевого отдела носа). По данным различных исследований, проведенных и описанных как в отечественной, так и в зарубежной литературе до 80% больных акромегалией имеют те или иные проявления заболевания, связанного с височно-нижнечелюстным суставом или полостью рта. Исходя из анализа современной отечественной и зарубежной литературы, некоторые авторы описывают зубочелюстные аномалии у пациентов с акромегалией в анамнезе, но нет четкой систематизации, алгоритма диагностики, лечения и долгосрочной реабилитации пациентов с акромегалией, что делает данное исследование актуальным. ЦЕЛЬ: анализ особенностей изменений и определение вида зубочелюстных аномалий у пациентов с акромегалией. МАТЕРИАЛЫ И МЕТОДЫ: исследование проводится на базах ФГБУ «НМИЦ эндокринологии», МГМСУ им. А.И. Евдокимова. Включены 20 пациентов (10 мужчин и 10 женщин). Пациентам проводилась компьютерная томография лицевого скелета, магнитно-резонансная томография височно-нижнечелюстного сустава (ВНЧС), анкетирование, анализ данных анамнеза и гормонального статуса. РЕЗУЛЬТАТЫ: у 7 пациентов отмечались внутренние нарушения ВНЧС (дислокация суставного диска, ремоделирование суставной головки, остеофиты) по данным МРТ. У 7 пациентов антропометрические нарушения параметров лица визуально не определялись. У троих пациентов, имеющих значительные аномалии размеров нижней челюсти также отмечалось увеличение в размерах латерального полюса головки мыщелкового отростка, что является интересным наблюдением, как и увеличение в объеме кости подбородочного отдела нижней челюсти. Средний угол SNA по телерентгенограмме составил 81 градус, что можно отнести к норме, а средний показатель угла SNB при нашем исследовании составил 87градусов при норме около 77 градусов. Изменения конфигурации лица, характеризующиеся массивной гипертрофией подкожно-жировой клетчатки, преимущественно средней трети, увеличением в объеме нижней губы и длины носа, за счет гипертрофии перегородочного хряща. ВЫВОДЫ: отличительной особенностью скелетной аномалии челюстей у пациентов с акромегалией является увеличение в размерах ветвей нижней челюсти, во всех случаях возникновения аномалий, симметричное. Данные изменения приводят к нарушению прикуса, с тенденцией к III классу зубочелюстной аномалий (обратная резцовая дизокклюзия), однако также характеризующиеся при этом дизокклюзией жевательной группы зубов.

The high prevalence of COVID-19 requires the research progress on the disease pathogenesis. There is a lot of data confirming the association between mineral metabolism and the severity of COVID-19.AIM:To study the dynamics of mineral metabolism parameters in patients with a confirmed COVID-19 at the time of hospitalization and after discharge, including the impact of etiotropic and pathogenetic therapy on them.MATERIALS AND METHODS:A single-center study of 106 patients (aged ≥18 years) with clinically or laboratory confirmed diagnosis of COVID-19 was carried out at the Endocrinology Research Centre, Moscow. Baseline biochemical parameters, including serum calcium, phosphorus, albumin, 25(OH)D, parathyroid hormone (PTH), inflammatory markers, and instrumental assessment of COVID-19 severity were performed before specific immunotherapy, as well as on 3rd and 7th days of hospitalization and before discharge. Statistical analysis was performed with Statistica 13 software (StatSoft, USA).RESULTS:On the first day, hypocalcemia (low albumin-adjusted calcium level) was detected in 40.6% of cases, the prevalence of vitamin D deficiency/insufficiency amounted to 95.3% of cases. At the same time, secondary hyperparathyroidism was identified only in 14.2% of patients. A comparative analysis of mineral metabolism during hospitalization (between 1, 3, 7 days of hospitalization and before discharge) during baricitinib treatment revealed a statistically significant increase in albumin-adjusted calcium by the end of hospitalization (p&lt;0.001, Friedman criterion, Bonferroni correction p0=0.01). A pairwise comparison of subgroups, depending on the therapy, revealed a statistically significantly lower level of albumin-adjusted calcium on 3rd day among patients on baricitinib monotherapy or combined with tocilizumab compared with a subgroup of patients undergoing etiotropic treatment (2.16 [2.13; 2.18] mmol/l vs 2.23 [2.19; 2.28] mmol/l, p=0.002, U-test, Bonferroni correction p0=0.012).CONCLUSION:Patients with severe coronavirus infection are characterized by a high prevalence of vitamin D deficiency and hypocalcemia. Associations between calcium and saturation as well as the severity of lung lesion characterizes hypocalcemia as an important predictor of severe course and poor outcome in COVID-19. Pathogenetic therapy with baricitinib, including in combination with tocilizumab, contributes to achieve normocalcemia, but further studies are required.

Cardiovascular disease (CVD) in type 1 diabetes mellitus (T1DM) is preceded by asymptomatic changes in the geometry of the heart. The only symptoms of the beginning of cardiac remodeling and concomitant predictors of an unfavorable cardiovascular prognosis are: thickening of epicardial fat (EAT), secreting a number of adipokines, and cardiospecific miRNAs. To improve the effectiveness of prevention of CVD in young patients with DM1, a search was made for structural-functional and epigenetic markers. Aim. To assess the state of the cardiovascular system according to MRI-heart with T1 mapping in T1DM without CVD. To reveal the relationship of epigenetic markers (circulating miR-126-5p, miR-21-5p) and adipokines with cardiovascular system in T1DM. Suggested personalized approach to patients with T1DM with initial manifestations of joint remodeling and/or exclusion of cardiospecific microRNA. Materials and methods. The study included 40 patients: 30 with T1DM (age 26.2±7.4 years), 10 without T1DM (26.4±8.2). The patients underwent a general clinical examination, bioimpedancemetry, electrocardiography, MRI of the heart with T1 mapping, determination of adiponectin, resistin, visfatin, NT-proBNP, miR-126-5p, miR-21-5p. Results. Patients with T1DM had lower levels of cardioprotective miR-126-5p (p=0.046). According to MRI of the heart in T1DM, signs of vascular remodeling were revealed – thickening of the interventricular septum (p=0.001), posterior wall (p=0.012) and relative size of the walls (p=0.048) of the left ventricle, an increase in EAT density (p=0.001). Diffuse vascular fibrosis was found in 16% of patients from the T1DM group. Also, in T1DM, the expression of visfatin is increased (p=0.036) and adiponectin is reduced (p=0.043). Conclusion. Structural and functional changes in the cardiovascular system (including thickening of the EAT), shifts in miR-126-5p expression and adipokines profile are observed already at a young age in patients with T1DM. In T1DM, diffuse vascular fibrosis is detected in 16% of patients. The data obtained were used to identify the group increased risk of developing CVD in T1DM and served as the basis for determining the timing of the start of preventive therapy.