Problemy endokrinologii最新文献

{"title":"[Preclinical diagnostics of von Hippel-Lindau syndrome in a child].","authors":"O A Malievskiy, R I Malievskaya, V A Malievskiy, A N Tulpakov","doi":"10.14341/probl13280","DOIUrl":"10.14341/probl13280","url":null,"abstract":"<p><p>The description of the child aged 5 months with the von Hippel-Lindau syndrome without any manifestations of this syndrome is presented. The reason for the molecular genetic examination was the presence of cases of this syndrome in the family (mother and sister). The heterozygous variant c.355T&gt;C p.F119L was found in the VHL gene. An objective examination revealed no pathology. A comprehensive laboratory and instrumental examination aimed at searching for components of the von Hippel-Lindau syndrome, including a blood test for metanephrines and normetanephrines, ultrasound of the abdominal organs, examination of the fundus, also did not reveal any abnormalities. Given the results of molecular genetic diagnosis, the child remains under observation and will undergo regular examinations to identify components of the von Hippel-Lindau syndrome, including blood/urine tests for normetanephrines.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 1","pages":"100-104"},"PeriodicalIF":0.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10926248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The lacrimal apparatus as an organ at risk during radionuclide therapy].","authors":"M S Sheremeta, A A Trukhin, V D Yartsev, D V Yudakov, M O Korchagina, S A Gojaeva","doi":"10.14341/probl13163","DOIUrl":"10.14341/probl13163","url":null,"abstract":"<p><p>Within the framework of the article, the authors analyzed the available information about the damage to the lacrimal apparatus during radionuclide therapy. In focus of article lesions of the lacrimal production system, the main and accessory lacrimal glands, as well as lacrimal drainage are considered. It was found that damage to the lacrimal apparatus is characteristic of 131I therapy for thyroid cancer, as well as for radioligand therapy using anti-PSMA antibodies labeled with 177Lu and 225Ac. 177Lu-PSMA and 225Ac-PSMA may damage the lacrimal gland with the formation of a clinically pronounced \"dry eye syndrome\". The pathogenesis of such lesions is associated with the accumulation of a radioisotope in the tissues of the lacrimal apparatus, while during therapy with 131I, accumulation is realized due to the expression of the sodium-iodine symporter in the nasolacrimal duct, and during therapy with 177Lu-PSMA and 225Ac-PSMA, the radiobiological effect is realized in connection with the expression PSMA by lacrimal tissue. An analysis of the available sources showed that to date there are no results of systematic studies on the problem, there is a lack of knowledge regarding the individual risks of developing these complications, methods for their prevention that have proven effectiveness have not been developed, and the treatment methods used, having relatively low efficiency, are not specialized. The authors concluded that the strengthening of interdisciplinary interaction, as well as the organization verification methodology and correct studies, can contribute to solving problems related to the study of the complications under consideration.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 1","pages":"13-17"},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10926245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Machine learning methods in differential diagnosis of ACTH-dependent hypercortisolism].","authors":"O O Golounina, Zh E Belaya, K A Voronov, A G Solodovnikov, L Ya Rozhinskaya, G A Melnichenko, N G Mokrysheva, I I Dedov","doi":"10.14341/probl13342","DOIUrl":"10.14341/probl13342","url":null,"abstract":"<p><strong>Aim: </strong>To develop a noninvasive method of differential diagnosis of ACTH-dependent hypercortisolism, as well as to evaluate the effectiveness of an optimal algorithm for predicting the probability of ectopic ACTH syndrome (EAS) obtained using machine learning methods based on the analysis of clinical data.</p><p><strong>Materials and methods: </strong>As part of a single-center, one-stage, cohort study, a retrospective prediction of the probability of EAS among patients with ACTH-dependent hypercortisolism was carried out. Patients were randomly stratified into 2 samples: training (80%) and test (20%). Eleven machine learning algorithms were used to develop predictive models: Linear Discriminant Analysis, Logistic Regression, elastic network (GLMNET), Support Vector machine (SVM Radial), k-nearest neighbors (kNN), Naive Bayes, binary decision tree (CART), C5.0 decision tree algorithms, Bagged CART, Random Forest, Gradient Boosting (Stochastic Gradient Boosting, GBM).</p><p><strong>Results: </strong>The study included 223 patients (163 women, 60 men) with ACTH-dependent hypercortisolism, of which 175 patients with Cushing's disease (CD), 48 - with EAS. As a result of preliminary data processing and selection of the most informative signs, the final variables for the classification and prediction of EAS were selected: ACTH level at 08:00 hours, potassium level (the minimum value of potassium in the active stage of the disease), 24-h urinary free cortisol, late-night serum cortisol, late-night salivary cortisol, the largest size of pituitary adenoma according to MRI of the brain. The best predictive ability in a training sample of all trained machine learning models for all three final metrics (ROC-AUC (0.867), sensitivity (90%), specificity (56.4%)) demonstrated a model of gradient boosting (Generalized Boosted Modeling, GBM). In the test sample, the AUC, sensitivity and specificity of the model in predicting EAS were 0.920; 77.8% and 97.1%, respectively.</p><p><strong>Conclusion: </strong>The prognostic model based on machine learning methods makes it possible to differentiate patients with EAS and CD based on basic clinical results and can be used as a primary screening of patients with ACTH-dependent hypercortisolism.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 1","pages":"18-29"},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10926240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Growth hormone - 30 years of clinical practice: past, present, future].","authors":"I I Dedov, O B Bezlepkina, M S Pankratova, E V Nagaeva, E N Raykina, V A Peterkova","doi":"10.14341/probl13432","DOIUrl":"10.14341/probl13432","url":null,"abstract":"<p><p>The recombinant technologies era, which began in the second half of the XX century, made it possible to produce recombinant growth hormone (rGH) necessary for the treatment of stunting of various genesis. The time of practically unlimited possibilities of rGH production has come, which served as a stimulus for studying the efficacy and safety of rGH application, searching for optimal ways of its use and dosing regimes. Many years of experience in the use of somatropin in clinical practice allowed us to obtain data on its effectiveness primarily in somatotropic insufficiency in children, to study its effect on the functional state of various organs and systems, and to expand the indications for the use of RGR.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 1","pages":"4-12"},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10926242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Metastatic pheochromocytoma in multiple endocrine neoplasia type 2A].","authors":"D V Rebrova, V F Rusakov, L M Krasnov, E A Fedorov, I K Chinchuk, N V Vorokhobina, S S Shikhmagomedov, A A Semenov, R A Chernikov, I V Sleptsov, G I Gavton, E N Imyanitov","doi":"10.14341/probl13332","DOIUrl":"10.14341/probl13332","url":null,"abstract":"<p><p>Pheochromocytoma (PHEO) currently is considered to be malignant due to metastatic potential. One of the most common familial forms of PHEO is multiple endocrine neoplasia syndrome (MEN) type 2. The penetrance of PHEO in MEN2 syndrome is up to 50% of cases. It may be one- or two-sided, but metastases occur extremely rare. The fact that in majority of cases of MEN2 syndrome the source of distant metastases is medullary thyroid carcinoma (MTC) complicates differential diagnosis in case of PHEO metastasis.Isolated cases of PHEO with metastases to the lymph nodes, lungs, liver, bones, brain in MEN2 patients were described. In the available literature, we have found a description of 31 cases of metastatic PHEO in MEN2 syndrome. The available data of those cases is presented as a table in the article.We present a description of a 40-year-old woman with MEN2A syndrome (mutation of the RET proto-oncogene p.Cys634Tyr), with a history of twice-performed surgical treatment of MTC, with daily crises of arterial hypertension accompanied by vegetative symptoms, with a giant bilateral PHEO (up to 200 m on the right and up to 150 mm on the left) with synchronous large metastasis (up to 50 mm) into the pubic bone with the destruction. The patient underwent several surgeries: bilateral adrenalectomy, then a bilateral revision of the neck, removal of the right upper and right lower parathyroid glands, residual thyroid tissue, then resection of the right pubic bone with a tumor.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 6","pages":"35-44"},"PeriodicalIF":0.0,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Ectopic acromegaly due to bronchial neuroendocrine tumors: the first description in Russia of three clinical cases].","authors":"E O Mamedova, E G Przhiyalkovskaya, S A Buryakina, E V Bondarenko, A M Lapshina, M Yu Pikunov, Zh E Belaya, G A Melnichenko","doi":"10.14341/probl13346","DOIUrl":"10.14341/probl13346","url":null,"abstract":"<p><p> Acromegaly is a neuroendocrine disorder caused by excessive production of growth hormone (GH). In the majority of cases the cause of acromegaly is a pituitary tumor producing GH. Cases of ectopic acromegaly are much rarer. Ectopic acromegaly occurs in cases of tumors which produce growth hormone-releasing hormone (GHRH) or extrapituitary tumors which produce GH. The main sources of excessive GHRH production are neuroendocrine tumors (NETs) of the lung or pancreas. Treatment of ectopic acromegaly consists of surgical removal of the source of GHRH hyperproduction and in cases where surgery is not an option, somatostatin analogues, pegvisomant, chemotherapy, immunotherapy or radiation therapy are used.In this article three cases of ectopic acromegaly due to GHRH-producing lung NETs are presented, each of them being notable for a number of features. In the first two cases, clinical symptoms were mild, besides in the second case ectopic acromegaly was accompanied by primary hyperparathyroidism. In the third case ectopic acromegaly was accompanied by pituitary macroadenoma, and after surgical removal of the lung NET remission of acromegaly was not achieved. In all three cases, lung NETs were detected incidentally on radiologic chest screening for other conditions.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 1","pages":"66-80"},"PeriodicalIF":0.0,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10926249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Significance and methodology of monitoring calcemia in disorders of mineral metabolism: challenges and prospects].","authors":"K A Chubakova, E M Kamenskih, T V Saprina","doi":"10.14341/probl13413","DOIUrl":"10.14341/probl13413","url":null,"abstract":"<p><p>Disorders of calcium and phosphorus metabolism can cause severe complications that require changing of therapeutic strategies and a long treatment in a hospital. The prevalence of diseases accompanied by calcium metabolism disorders varies from low to moderate. For example, primary hyperparathyroidism, as one of the most common causes of pathological changes in calcium metabolism due to parathyroid hormone hypersecretion, occurs with a frequency of 85 to 233 cases per 100 thousand people. In countries where blood calcium measurements are not routinely carried out, this disease and similar conditions are diagnosed less frequently, and at later stages, with a predominance of manifest and complicated forms. However, calcium metabolism disorders require timely detection and correction in order to prevent complications. At the same time, in a number of clinical situations, standard laboratory analysis is not the optimal diagnostic option due to the duration and complexity of its implementation. In particular, the development of acute hyper- and hypocalcemia requires faster obtaining of blood test results. It is promising to apply technologies allowing to quick assess the current level of calcium directly at a doctor's appointment especially in cases of drug doses adjustment for patients with chronic disorders of calcium metabolism. In this regard, when long-term monitoring of calcemia is required or in emergency situations, the potential benefit can be obtained by using portable Point-of-Care (POC) devices or wearable biosensors. This review examines the clinical and methodological aspects of monitoring calcium levels, their capabilities and practical limitations, and also highlights the prospects for the development and implementation of POC devices and biosensors for ionized calcium.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 6","pages":"83-90"},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Endocrine and psychosomatic disorders in patients with amenorrhea].","authors":"Yu S Absatarova, E N Andreeva, Yu S Evseeva, T A Zelenkova-Zakharchuk, E V Sheremetyeva, O R Grigoryan, R K Mikheev","doi":"10.14341/probl13366","DOIUrl":"10.14341/probl13366","url":null,"abstract":"<p><p>The article presents data on the relationship of pathogenetic mechanisms for the development of menstrual disorders of functional and organic origin in connection with mental disturbances from the point of view of the psychosomatic concept. According to the latter, functional disorders of the menstrual cycle are considered as psychosomatic, in which gynecological pathology develops as a result of psychopathological illness. A striking example of such a disorder is functional hypothalamic amenorrhea. At the same time, endocrinopathies, such as polycystic ovary syndrome and premature ovarian insufficiency, can also be considered in the paradigm of psychosomatic illnesses of ovarian function due to the high prevalence of anxiety and depressive disorders in this cohort of patients. This review highlights the importance of interdisciplinary collaboration between a gynecologist and a psychiatrist for the most effective reproductive rehabilitation of patients with amenorrhea. Literature search was carried out in national (eLibrary, CyberLeninka.ru) and international (PubMed, Cochrane Library) databases in Russian and English. The priority was free access to the full text of articles. The choice of sources was prioritized for the period from 2018 to 2023.However, taking into account the insufficient knowledge of the chosen topic, the choice of sources dates back to 1985.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"69 6","pages":"121-131"},"PeriodicalIF":0.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10848186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139682258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Type 2 amiodarone-induced thyrotoxicosis: efficacy of glucocorticoid therapy, a retrospective analysis].","authors":"A S Ermolaeva, V V Fadeev","doi":"10.14341/probl13267","DOIUrl":"10.14341/probl13267","url":null,"abstract":"<p><strong>Background: </strong>Type 2 amiodarone-induced thyrotoxicosis remains a significant problem of endocrinology and cardiology. Due to the increase a life expectancy of the population, the prevalence of cardiac arrhythmias and prescribing of amiodarone are increasing. Thyrotoxicosis aggravates the existing cardiovascular disease in patients, leads to the progression of left ventricular dysfunction, relapses of arrhythmias, increasing the risk of adverse outcomes. The tactic of further management of patients is complicated: it is necessary to resolve the issue of canceling or continuing the use of antiarrhythmic drugs necessary for a patient with a history of cardiac arrhythmia, as well as competent therapy of the thyroid pathology that has arisen. Oral glucocorticoids are the first-line drugs for the treatment of patients with moderate and severe type 2  amiodarone-induced thyrotoxicosis. Despite the appearance of clinical recommendations, opinions on the management of patients are differ, both among cardiologists and among endocrinologists. Often thyrostatics are prescribed to patients simultaneously with glucocorticoids, although it doesn't have pathogenetic basis.</p><p><strong>Aim: </strong>To evaluate the efficacy of various therapy options in patients with type 2 amiodarone-induced thyrotoxicosis.</p><p><strong>Materials and methods: </strong>The retrospective study included 38 patients (20 men and 18 women aged 35 to 85 years) with type 2 amiodarone-induced thyrotoxicosis. All patients underwent an analysis of anamnestic, anthropometric data, complex laboratory and instrumental diagnostics. According to the treatment options, 3 groups were retrospectively formed: without therapy (n=19), taking glucocorticoids (n=11) and combination of glucocorticoids and thyrostatics (n=8). The follow-up period was 6-18 months, including the treatment. The efficacy of treatment in the groups was evaluated by the time of reaching euthyroidism on the background of glucocorticoid therapy and duration of thyrotoxicosis; the search was conducted for potential predictors of delayed response to glucocorticoid therapy and long-term course of thyrotoxicosis.</p><p><strong>Results: </strong>The average age was 62.0 [52.9; 66.3] years. The level of free thyroxine was significantly decreased after 1 month from the start of therapy in both groups: from 38.1 [32.1; 58.4] to 23.4 [19.6; 29.3] pmol/l (p&lt;0.001) in the group taking glucocorticoids; from 73.9 [42.2; 75.6] to 39.3 [22.4; 47.2] pmol/l (p&lt;0.001) in the combination therapy group. The time of reaching euthyroidism was longer in the combination therapy group (p=0.047), didn't depend on the dose (p=0.338) and duration of taking thiamazole (p=0.911), the delayed response to therapy correlated with age (p=-0.857; p=0.007) and time interval from the appearance of clinical symptoms of thyrotoxicosis to the start of glucocorticoid therapy (p=0.881; p&lt;0.001).</p><p><strong>Conclusion: </strong>The result","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"69 6","pages":"17-27"},"PeriodicalIF":0.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10848191/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139682283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Development of sarcoidosis after successful treatment of Cushing's disease].","authors":"P A Zakharova, I A Ilovayskaya, S A Terpigorev, I V Komerdus, A Yu Lugovskaya","doi":"10.14341/probl13203","DOIUrl":"10.14341/probl13203","url":null,"abstract":"<p><p>Cushing's disease is a rare severe neuroendocrine disorder caused by chronic overproduction of adrenocorticotropic hormone by a pituitary tumor. Supraphysiological concentrations of cortisol in endogenous hypercortisolism have an immunosuppressive and anti-inflammatory effect similar to therapy with systemic glucocorticosteroids. This may reduce the activity of the patient's concomitant autoimmune inflammatory diseases. On the other hand, a decrease in cortisol levels during treatment for Cushing's disease may be associated with a reactivation of the immune system that pose a risk of onset or recurrence of an autoimmune disorder. We present our own clinical case demonstrating the development of sarcoidosis after surgical treatment of Cushing's disease.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"69 6","pages":"47-53"},"PeriodicalIF":0.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10848190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139682255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}