Problemy endokrinologii最新文献

{"title":"[Molecular and cellular mechanisms of ageing: modern knowledge (literature review)].","authors":"R K Mikheev, E N Andreeva, O R Grigoryan, E V Sheremetyeva, Yu S Absatarova, A S Odarchenko, O N Opletaeva","doi":"10.14341/probl13278","DOIUrl":"10.14341/probl13278","url":null,"abstract":"<p><p>Ageing (as known as eldering, senescence) is a genetically and epigenetically programmed pathophysiological process. Velocity of biological ageing is defined as balance between alteration and reparation of body structures. According to last World Health Organization (WHO) highlights ageing still stays an extremely actual scientific, social and demographic problem: in 2020 total number of people older than 60 years and older was 1 billion people; in 2030 future number may be 1,4 billion people, in 2050 - 2,1 billion people. Absence of single universal theory of aging nowadays is reason for scientifical and clinical collaboration between biologists and doctors, including endocrinologists. Designing of potentially effective newest anti-ageing strategies (such as natural/synthetic telomerase regulators, mesenchymal stem cells etc.) is of interest to scientific community. The aim of present article is a review of modern omics (genomic, proteomic, metabolomic) ageing mechanisms, potential ways of targeted prevention and treatment of age-related disease according to conception of personalized medicine. Present review is narrative, it does not lead to systematic review, meta-analysis and does not aim to commercial advertisement. Review has been provided via PubMed article that have been published since 1979 until 2022.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"69 5","pages":"45-54"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134650797","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":"[Clinical and immunological predictors of Graves' orbitopathy after radioiodine therapy of Graves' disease].","authors":"M S Sheremeta, E G Bessmertnaya, A R Elfimova, D M Babaeva, I M Belovalova, N Yu Sviridenko","doi":"10.14341/probl13293","DOIUrl":"10.14341/probl13293","url":null,"abstract":"<p><strong>Background: </strong>Data on the effect of 131I on the course of Graves' orbitopathy (GO) are contradictory. A number of studies indicate a deterioration in the course of GO against the background of RAIT, in other studies such a connection has not been established. Cytokines that regulate inflammation could potentially be biomarkers for assessing GO activity and predicting the course of GO after RAIT.</p><p><strong>Aim: </strong>The purpose of this study was to evaluate the dynamics of eye symptoms and analyze immunological parameters: cytokine TGF-β1 and cytokine receptors: sTNFα-R1, sTNFα-R2, sIL-2R, sIL-6R over time after RAIT, as possible predictors of GO activation.</p><p><strong>Materials and methods: </strong>The study included 59 patients (118 orbits) with GD in the state of euthyroidism and subclinical hyperthyroidism and low active and inactive GO, aimed at conducting RAIT. Concentrations of cytokine TGF-β1, sTNFα-RI and sTNFα-R2, sIL-2R, sIL-6R, TSH receptor antibodies (rTSH-Ab), free thyroxine (FT4) and free triiodothyronine (FT3), -thyroid-stimulating hormone (TSH) in the blood serum were determined. Ultrasound examination of the thyroid gland, multispiral computed tomography (MSCT)/magnetic resonance imaging (MRI) of the orbits was performed. The examination was carried out 3, 6, 12 months after the RAIT.</p><p><strong>Results: </strong>The deterioration of the course of the GO (1-2 points according to CAS) was noted after 3 months. (32.5%) and to a lesser degree after 6 and 12 months (13.2% and 8.45%, respectively). Dynamics were not noted, approximately, in the same number of patients (40.5%, 41.5%, 45.8%, respectively). An improvement in the course of the GO was noted after 6 and 12 months (45.3, 45.8, respectively). After 3 and 6 months, the achievement of hypothyroidism and a significant increase in the level of rTSH-Ab were noted. In the analysis of cytokines and their receptors a significant decrease in the level of TGF-β1 was noted after 3, 6 and 12 months. There was also a significant decrease in sTNF-R1 and sIL-2R at 3 and 6 months. The level of sTNFα-R2 significantly decreased 3 months after RAIT. The level of sIL-6R has not changed significantly. After 3 months in patients with positive dynamics of image intensification, the level of TGF-β1 did not significantly change compared with the level before RAIT, in patients with worsening of the course of GO or without dynamics, the level of TGF-β1 significantly decreased. After 6 months, there was the same trend, not reaching statistical significance. The IgG4 level and the IgG4/IgG ratio increased to 6 and 12 months, which corresponded to an increase in diplopia index.</p><p><strong>Conclusion: </strong>The main limiting factor in the conduct of RAIT is the activity of the autoimmune process in the orbits. Since patients with inactive (CAS 0-2) or low activity (CAS 3-4) GO were referred for RAIT, there was no pronounced activation of GO after RAIT. There was a sli","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"69 5","pages":"16-24"},"PeriodicalIF":0.0,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134650831","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":"[Clinical features, diagnostics and treatment of FGF23 secreting tumors: series of 40 clinical cases].","authors":"S A Gronskaia, Zh E Belaya, L Ya Rozhinskaya, G A Melnichenko, T A Dubovitskaya, E O Mamedova, S S Rodionova, Yu V Buklemishev, E A Pigarova, M V Degtyarev, D M Babaeva, V P Vladimirova, N V Tarbaeva, S S Serzhenko, A Yu Grigoriev, L K Dzeranova, V Yu Karpenko, A L Karasev, R N Fedotov, I N Uliyanova, N V Toroptsova, O M Lesnyak, N G Mokrysheva, I I Dedov","doi":"10.14341/probl13221","DOIUrl":"10.14341/probl13221","url":null,"abstract":"<p><strong>Introduction: </strong>Tumor-induced osteomalacia is an acquired rare disease manifested by hypophosphatemic osteomalacia due to excessive secretion of fibroblast growth factor 23 (FGF23). FGF 23 is a non-classical hormone secreted by bone tissue (osteocytes) and regulates phosphorus metabolism.The aim of this work is to present clinical experience in the diagnosis, treatment and rehabilitation of patients with tumor-induced osteomalacia.</p><p><strong>Materials and methods: </strong>40 patients with clinically-confirmed tumor-induced osteomalacia were included in the study, 34 of whom had the tumor localized, 27 underwent surgical treatment and 21 achieved stable remission.</p><p><strong>Results: </strong>The median age was 48 [41; 63] years, 43% were men, the time left from the the onset of the disease was 8 [4; 10] years. Biochemical findings were hypophosphatemia 0.47 [0.4; 0.53] mmol/l, a decrease in the tubular reabsorption phosphate 62 [52; 67]%, and an increase in alkaline phosphatase of 183 [112; 294] units/l. At the time of diagnosis, 100% had multiple pathological fractures, only 10% could move independently, and 77.5% classified the pain as unbearable (8-10 points according to the 10-point pain syndrome scale ). Among the methods used to detect tumors, the most sensitive were scintigraphy with tectrotide with SPECT/CT 71.4% (20/28) and MRI 90% (18/20). In 35% of cases, the tumor was localized in soft tissues and in 65% in bone tissue; The tumor was most often detected in the lower extremities, followed by the head in frequency of localization. 18 patients currently have no remission and they receive conservative treatment (phosphorus and alfacalcidol n=15 and burosumab n=3). In case of achieving remission (n=21), regression of clinical symptoms and restoration of bone and muscle mass was observed. Extensive excision of the tumor without prior biopsy resulted in the best percentage of remission - 87%.</p><p><strong>Conclusion: </strong>Tumor-induced osteomalacia is characterized by severe damage to bone and muscle tissue with the development of multiple fractures, muscle weakness and severe pain syndrome. In laboratory diagnostics, attention should be paid to hypophosphatemia, a decrease in the tubular reabsorption phosphate index and increased alkaline phosphatase. The use of functional diagnostic methods with a labeled somatostatin analogue to the subtype 2 receptor and MRI with contrast enhancement are the most accurate methods of topical diagnostics. In case of localization of the tumor, a wide excision without a preliminary biopsy is recommended.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"69 5","pages":"25-38"},"PeriodicalIF":0.0,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134650794","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":"[Predicting the presence of <i>MEN1</i> gene mutation based on the clinical phenotype of patients with primary hyperparathyroidism].","authors":"N G Mokrysheva, A K Eremkina, A P Miliutina, R Kh Salimkhanov, L A Aboishava, E E Bibik, A M Gorbacheva, A R Elfimova, E V Kovaleva, S V Popov, G A Melnichenko","doi":"10.14341/probl13322","DOIUrl":"10.14341/probl13322","url":null,"abstract":"<p><strong>Background: </strong>Timely referral of patients for genetic testing to rule out MEN1-associated primary PHPT is important factor in determining treatment strategy and prognosis. In the context of the limited availability of genetic testing, the search for clinical markers indicative of MEN1 gene mutations remains an extremely relevant task.</p><p><strong>Aim: </strong>To determine the diagnostic value of clinical features of primary PHPT in young patients for predicting the presence of MEN1 gene mutations.</p><p><strong>Materials and methods: </strong>A single-center, prospective study was conducted at the Endocrinology Research Centre, involving 273 patients with PHPT in the period 2015-2022. Based on the results of genetic and laboratory tests, patients were divided into three groups: those with MEN1 gene mutations (MEN+ group, n=71), those without MEN1 gene mutations - isolated sporadic PHPT (MEN- group, n=158), and patients with PHPT and associated endocrine gland disorders - MEN-1 syndrome phenocopies (PHEN group, n=32). Subgroups of patients younger than 40 years of age were also identified. Comparative analysis was performed among the independent groups and subgroups, and logistic regression analysis was used to develop a mathematical model for predicting the probability of the presence of MEN1 gene mutation.</p><p><strong>Results: </strong>Patients in the MEN+ and MEN- groups were comparable by gender and age at manifestation, as well as calcium-phosphorus metabolism parameters and PHPT complications. In the PHEN group, PHPT manifested at older age compared to the other groups (p&lt;0.001 for all), with lower total calcium levels and a trend toward lower iPTH concentrations. The MEN+ group had a significantly higher frequency of multiglandular parathyroid (PG) involvement, PHPT recurrence, and positive family history compared to the MEN- and PHEN groups. Histologically, adenomas predominated in the PHEN and MEN- groups (92% and 94%, respectively), whereas hyperplasia of PGs were more common in the MEN+ group (49%). None of the PHEN patients had all three «classic» components of the MEN-1 syndrome, and the clinical course of PHPT was similar to that of the MEN- group. These differences were also observed in the subgroups of patients younger than 40 years, which formed the basis for the development of a mathematical model. The logistic regression equation for predicting the probability of the presence of the MEN1 gene mutation included eight predictors, with a diagnostic sensitivity of 96% and specificity of 98%.</p><p><strong>Conclusion: </strong>Based on the analysis performed, eight hereditary predictors of PHPT within the MEN-1 syndrome were identified. A mathematical model was developed to predict the presence of the MEN1 gene mutation in patients, which demonstrated high classification performance on the training dataset. Further refinement of the model will help improve the quality of medical care for patients with PHPT.<","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"69 5","pages":"4-15"},"PeriodicalIF":0.0,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134650799","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":"[Clinical and laboratory features of rheumatoid arthritis in men depending on testosterone levels].","authors":"T S Panevin, R V Rozhivanov, E G Zotkin, M E Diatroptov, S I Glukhova, E Yu Samarkina","doi":"10.14341/probl13373","DOIUrl":"10.14341/probl13373","url":null,"abstract":"<p><strong>Background: </strong> It has been suggested that the presence of chronic immunoinflammatory rheumatic disease (CIRD) may be a factor that increases the likelihood of developing hypogonadism syndrome, and conversely, the presence of uncompensated testosterone deficiency may predispose to a greater risk of developing or more severe course of ICRD.</p><p><strong>Aim: </strong> To study the incidence of hypogonadism in men with rheumatoid arthritis (RA) and evaluate its impact on the course of RA and concomitant diseases.</p><p><strong>Materials and methods: </strong> A one-time continuous study included 170 men with RA who were undergoing inpatient treatment at the Federal State Budgetary Institution NIIR named after. V.A. Nasonova. Patients were assessed for total testosterone levels and subsequently divided into subgroups with normal (&gt;12 nmol/l) and reduced levels. An intergroup comparison was carried out on the main indicators used in clinical rheumatological practice to assess the stage, activity and other medical and demographic characteristics of RA, as well as the state of purine and carbohydrate metabolism. A correlation analysis was performed between the level of total testosterone and some clinical and laboratory parameters.</p><p><strong>Results: </strong> The frequency of detected testosterone deficiency in the study group was 24.1%. Significant correlations were noted between the level of total testosterone and body mass index (r=-0.29), the level of blood uric acid (r=-0.19) and C-reactive protein (r=-0.18). Patients with hypogonadism compared to the group with normal testosterone levels were characterized by higher body mass index (29.3±5.6 vs 26.3±4.0 kg/m2; p&lt;0.001), glucose levels (6.95±7 .85 mmol/l vs 5.42±1.13 mmol/l; p=0.034) and uric acid (354.6±110.7 vs 317.5±84.8 µmol/l; p=0.03) blood. In addition, patients with hypogonadism were more likely to suffer from obesity (41.6% vs 15.7%; p=0.001) and diabetes mellitus (21.6% vs 10.2%; p=0.075) without a statistically significant difference, and also had higher ESR (46.5±42.2 vs 31.0±30.9 mm/h; p=0.012). A more frequent occurrence of anemia was noted in hypogonadism (32.4% vs 16.7%; p=0.041).</p><p><strong>Conclusion: </strong> Testosterone levels and the presence of hypogonadism were not associated with the stage and activity of RA, however, testosterone deficiency was accompanied by a more frequent development of overweight and obesity, and a deterioration in purine and carbohydrate metabolism.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 3","pages":"98-104"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790775","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":"[Molecular genetic abnormalities in ACTH-secreting pituitary tumors (corticotropinomas): fundamental research and prospects for use in clinical practice].","authors":"A M Lapshina","doi":"10.14341/probl13273","DOIUrl":"10.14341/probl13273","url":null,"abstract":"<p><p>In recent years, a large number of studies have been carried out to research molecular genetic abnormalities in ACTH--secreting pituitary tumors. This review presents a comprehensive analysis of exome studies results (germline and somatic mutations, chromosomal abnormalities in corticotropinomas which developed as part of hereditary syndromes MEN 1, 2, 4, DICER1, Carney complex etc., and isolated tumors, respectively) and transcriptome (specific genes expression profiles in hormonally active and inactive corticotropinomas, regulation of cell cycles and signal pathways). Modern technologies (next-generation sequencing - NGS) allow us to study the state of the microRNAome, DNA methylome and inactive chromatin sites, in particular using RNA sequencing. Thus, a wide range of fundamental studies is shown, the results of which allow us to identify and comprehend the key previously known and new pathogenesis mechanisms and biomarkers of corticotropinomas. The characteristics of the most promising molecular genetic factors that can be used in clinical practice for screening and earlier diagnosis of hereditary syndromes and isolated corticotropinomas, differential diagnosis of various forms of endogenous hypercorticism, sensitivity to existing and potential therapies and personalized outcome determination of Cushing`s disease.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 3","pages":"23-30"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790777","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 causes of obesity relapse after weight loss].","authors":"R M Guseinova, A V Dorovskikh, O V Vasyukova, E A Shestakova, P L Okorokov, N G Mokrysheva","doi":"10.14341/probl13275","DOIUrl":"10.14341/probl13275","url":null,"abstract":"<p><p>The main problem of obesity treatment is the difficulty of long-term weight maintenance. From one point of view, it can easily be explained by patients' low compliance and absence of self-control. From another point of view, body weight is regulated not only by persons will, but also by multiple physiological mechanisms. Moreover, studies demonstrate that the attempts to reduce body weight stimulate the activation of adaptive biological process that block weight reduction.Despite the variety of obesity treatment methods, only few patients are able to achieve significant (at least 5-7%) weight loss and maintain the result. In most cases people return to the initial weight in about 3-5 years. Therefore it is relevant to study weight regain mechanisms in order to identify new effective obesity treatment strategies.The objective of this review is to summarize the information about the main issues of central, peripheral and behavioral pathogenic mechanisms which lead to disease relapse after obesity treatment and ideas for future strategies to resolve them.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 3","pages":"67-73"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790781","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":"[Fulminant hypercorticism due to ACTG producing pheochromocytoma].","authors":"Z T Useinova, E A Pigarova, D G Bel'tsevich, A Chevais, L K Dzeranova, I I Sitkin, N V Tarbaeva, A V Khairieva, M V Degtyarev, N M Platonova, E A Troshina, E V Bondarenko","doi":"10.14341/probl13374","DOIUrl":"10.14341/probl13374","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 3","pages":"55-66"},"PeriodicalIF":0.0,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790776","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":"[Syndromic growth retardation caused by impaired function of the ribosomal protein eL13].","authors":"N A Makretskaya, I G Vorontsova, A A Buianova, D O Korostin, E E Petryaykina, A N Tiulpakov","doi":"10.14341/probl13377","DOIUrl":"10.14341/probl13377","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 3","pages":"93-97"},"PeriodicalIF":0.0,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790780","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: prevalence, time and predictors of development].","authors":"A S Ermolaeva, V V Fadeev","doi":"10.14341/probl13348","DOIUrl":"10.14341/probl13348","url":null,"abstract":"<p><strong>Background: </strong>Amiodarone takes a leading position in arrhythmological practice in the prevention and relief of various cardiac arrhythmias. Type 2 amiodarone-induced thyrotoxicosis is a frequent side effect of the drug. It is the most complex type of thyroid dysfunction both in terms of the severity of clinical manifestations, and in terms of understanding the mechanisms of pathogenesis, possibility of differential diagnosis and providing effective treatment. Due to the increasing life expectancy of the population, corresponding increase in the frequency of cardiac arrhythmias, the problem does not lose its relevance. Identification of predictors, assessment and prediction of the individual risk of developing this thyroid pathology is a necessity in daily clinical practice for making a reasonable decision when prescribing the drug, determining the algorithm for further dynamic monitoring of the patient.</p><p><strong>Aim: </strong>To evaluate the structure of amiodarone-induced thyroid dysfunction, prevalence, time and predictors of development type 2 amiodarone-induced thyrotoxicosis in a prospective cohort study. MATERIALS AND METHODS: The study involved 124 patients without thyroid dysfunction who received amiodarone therapy for the first time. Evaluation of the functional state of the thyroid gland was performed initially, after prescribing the drug for the first 3 months 1 time per month, in the future - every 3 months. The follow-up period averaged 12-24 months. The end of the observation occurred with the development of amiodaron-induced thyroid dysfunction or patient's refusal to further participate in the study. For the differential diagnosis of the type of amiodarone-induced thyrotoxicosis, the level of anti-TSH receptor antibodies and thyroid scintigraphy with technetium pertechnetate were determined. The type and frequency of thyroid dysfunction, time and predictors of development type 2 amiodarone-induced thyrotoxicosis were evaluated.</p><p><strong>Results: </strong>The structure of amiodarone-induced thyroid dysfunction was represented by hypothyroidism in 19,3% (n=24), type 1 thyrotoxicosis in 1,6% (n=2), type 2 thyrotoxicosis in 23,4% (n=29). The median time of its development was 92,0 [69,0;116,0] weeks; the average period of common survival - 150,2±12,6 weeks (95% CI: 125,5-175,0), median - 144±21,7 weeks (95% CI: 101,4-186,6). The main predictors of type 2 amiodarone-induced thyrotoxicosis were: age (OR=0,931; 95% CI: 0,895-0,968; p&lt;0.001), BMI (OR=0,859; 95% CI: 0,762-0,967; p=0,012), time from the start of amiodarone therapy (OR=1,023; 95% CI: 1,008-1,038; p=0,003). Age ≤60 years was associated with increased risk of the dysfunction by 2.4 times (OR=2,352; 95% CI: 1,053-5,253; p=0,037), BMI≤26,6 kg/m2 - 2,3 times (OR=2,301; 95% CI: 1,025-5,165; p=0,043). CONCLUSION: The results allow to personalized estimate the risk of type 2 amiodarone-induced thyrotoxicosis and determine the patient's management tacti","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"70 3","pages":"9-22"},"PeriodicalIF":0.0,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790811","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}