Problemy endokrinologii最新文献

{"title":"[Dilated cardiomyopathy in a patient with Cushing's disease - clinical presentation, diagnosis and treatment: a case report].","authors":"A B Kuznetsov, A Yа Grigoryev, V A Kuznetsov, Zh E Belaya, L Yа Rozhinskaya","doi":"10.14341/probl13147","DOIUrl":"10.14341/probl13147","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 4","pages":"16-28"},"PeriodicalIF":0.0,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12489967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182487","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":"[Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case].","authors":"N A Makretskaya, N Y Kalinchenko, A N Tiulpakov","doi":"10.14341/probl13517","DOIUrl":"10.14341/probl13517","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"34-38"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746754","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":"[DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report].","authors":"I G Sichinava, E S Demina, E M Sharibzhanova, F K Ismailova, A G Gvozdkova, D O Korostin, E E Petryaykina, A N Tiulpakov","doi":"10.14341/probl13501","DOIUrl":"10.14341/probl13501","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"46-50"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746752","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":"[Remote glycemic control using devices for wireless data transmission in children with type 1 diabetes mellitus: interim results of clinical approbation].","authors":"D N Laptev, A O Emelyanov, E S Demina, I L Nikitina, G A Galkina, A A Voropay, E S Malysheva, Yu G Samoylova, V A Peterkova","doi":"10.14341/probl13492","DOIUrl":"10.14341/probl13492","url":null,"abstract":"<p><p>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.</p><p><strong>Objective: </strong> To evaluate the clinical effectiveness of remote glycemic control using devices for wireless data transmission in children with type 1 diabetes mellitus.</p><p><strong>Materials and methods: </strong> 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.</p><p><strong>Results: </strong> 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&lt;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).</p><p><strong>Conclusion: </strong> 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.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"39-45"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746756","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 molecular genetic features of cases of Floating-Harbor syndrome].","authors":"N A Makretskaya, O R Ismagilova, E A Shestopalova, M V Sharova, O A Levchenko, A V Bolmasova, M V Bulakh, V V Zabnenkova, A A Orlova, A A Kolodkina, O P Ryzhkova, A V Poliakov, A N Tiulpakov","doi":"10.14341/probl13530","DOIUrl":"10.14341/probl13530","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"56-61"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746751","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":"[A unique case of severe ACTH-dependent Cushing's syndrome due to ectopic corticotropin production by medullary thyroid carcinoma].","authors":"N I Timofeeva, R A Chernikov, I V Sleptsov, V F Rusakov, D V Rebrova, S L Vorobyev, T S Pridvizhkina, A A Semenov, M A Alexeev, A U Kulikov","doi":"10.14341/probl13512","DOIUrl":"10.14341/probl13512","url":null,"abstract":"<p><p>Medullary thyroid carcinoma is a rare aggressive tumor of thyroid gland. Due to its neuroendocrine origine medullary thyroid carcinoma can be the source of ectopic production of different peptides and hormones. We describe a unique case of severe ACTH-dependent Cushing's syndrome due to ectopic corticotropin production by medullary thyroid carcinoma in a male patient of 39 years old with calcitonin level more than 4000 pg/ml (&lt;11,8), thyroid nodule, multiple neck jugular and central lymphnodes. The potassium level was 1,34 mmol/l (3,5-5,1), hypercortisolemia up to 1613,2 nmol/l (185-624) with elevated level of ACTH up to 24,7 pmol/l (1,03-10,74). After the correction of water and electrolytes disorders an operation was performed - thyroidectomy, central and lateral neck dissection. Postoperative calcitonin decreased to 126 pg/ml (&lt;11,8), calcium and parathormone blood levels remained normal. The potassium level didn't decrease without any pharmacological treatment. There was a sharp fall in postoperative blood levels of cortisol and ACTH. The hormonal replacement treatment with hydrocortisone was induced. Morphological examination showed medullary carcinoma with ACTH production in tumor nodule, with metastatic neck lymph nodes. Thus this is a rare case and successful treatment of patient with severe hypercortisolism by thyroidectomy and neck lymphnodes dissection.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"25-33"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746750","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":"[Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants in <i>TBX19</i>].","authors":"Yu L Skorodok, A V Kozhevnikova, E V Plotnikova, I Y Ioffe, A N Tiulpakov","doi":"10.14341/probl13519","DOIUrl":"10.14341/probl13519","url":null,"abstract":"<p><p>Congenital isolated ACTH deficiency (СIAD) is an orphan autosomal recessive disease caused by ТВХ19 (1q24.2) gene pathogenic variants. The article presents two cases with a classic manifestation of the СIAD in neonatal period which were confirmed genetically, one of cases revealed the first described TBX19 gene variant. Despite the appearance of significant symptoms in the newborn period in both patients diagnoses were established at the 8th and 22nd months of life. Clinical manifestations of hypoglycemia were present in both patients: from the 1st day of life (episode of apnoea) in patient № 2 and from 7 months (seizures) in patient № 1. Cholestatic jaundice, hepatomegaly, signs of hepatocyte cytolysis, impaired protein-synthetic liver function were the main manifestations of the disease in 1st patient. This may indicate non-infectious cholestatic hepatitis. Improvement and gradual normalization of clinical and laboratory symptoms during hydrocortisone therapy confirmed the association of liver damage with hypocortisolemia. 2nd patient had no signs of cholestasis. Low cortisol levels were observed with reduced or low-normal ACTH, which confirmed central hypocorticism. Genetic study in both patients revealed TBX19 gene pathogenic variants in a homozygous state: c.82C&gt;T(p.Q28X) in patient №1, not previously described variant c.469-1G&gt;A in patient №2.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"51-55"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746758","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":"[Factors and conditions affecting transcortin production and function in blood plasma].","authors":"A Chevais, D G Beltsevich, K Sh Gadzhieva, H V Bagirova, A K Ebzeeva, A N Romanova, M M Gadzhimuradova, G A Melnichenko","doi":"10.14341/probl13483","DOIUrl":"10.14341/probl13483","url":null,"abstract":"<p><p>It is well-established that the majority of steroid hormones in the bloodstream are in a bound state, complexed with carrier proteins. Transcortin (corticosteroid-binding globulin, SERPINA6) serves as the principal transport protein for steroid hormones and is predominantly synthesized in the liver. Its primary function is to regulate the systemic bioavailability of glucocorticoids and mineralocorticoids. This review article presents an analysis of the existing literature on the impact of various factors and conditions on Transcortin, encompassing its synthesis, secretion, and affinity, as well as its role in physiological and pathophysiological processes within the human body. A reduction in Transcortin levels has been observed in several contexts, including old age, obesity, and metabolic syndrome. Additionally, this decrease is evident in the presence of cirrhosis, sepsis, polytrauma, extensive burns, and during surgical interventions. The concentration of Transcortin in the bloodstream can be influenced by a variety of medications. For instance, estrogen therapy, such as combined oral contraceptives, has been shown to induce a significant increase in Transcortin levels. Conversely, the administration of glucocorticoids has been associated with a decrease in Transcortin levels. Furthermore, this review article includes an analysis of studies that have investigated the influence of Transcortin and alterations in its blood levels in the context of endogenous hypercortisolism. These studies contribute to a deeper understanding of the complex interplay between Transcortin and steroid hormone regulation in various physiological and pathological conditions.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"14-24"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746753","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 role of an interdisciplinary approach to the treatment of patients with reduced ovarian reserve, premature ovarian insufficiency and mood disorders].","authors":"Y S Absatarova, Y S Evseeva, T A Zelenkova-Zakharchuk, E N Andreeva, E V Sheremetyeva, O R Grigoryan","doi":"10.14341/probl13576","DOIUrl":"10.14341/probl13576","url":null,"abstract":"<p><p>Diminished ovarian reserve and premature ovarian insufficiency (POI) are the pathologies associated with poor reproductive prognosis, decreased estrogen production, and the development of multiple complications of hypoestrogenism. Currently, in the absence of a response to superovulation stimulation, the most likely way for patients with these conditions to achieve pregnancy is through the use of a donor oocyte. In addition, the condition of the patient presented in the second clinical description is aggravated the pathology of carbohydrate metabolism. However, the management of these women often overlooks their mental exhausting which exacerbates the underlying condition. In this publication, we present descriptions of patients with diminished ovarian reserve and POI with concomitant mood disorders who wish to become pregnant. Both patients were treated under dynamic monitoring by a psychotherapist with positive results. Moreover, spontaneous pregnancy occurred in both women described in this article. These clinical cases highlight the importance of a multidisciplinary approach in managing women with ovarian insufficiency to enhance treatment effectiveness and restore reproductive function.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"68-74"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746757","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":"[A case of thyroid hormone resistance syndrome due to previously undescribed mutation in the <i>THRA</i> gene].","authors":"Y L Skorodok, T S Grabchak, E V Plotnikova, E N Suspitsin, I Y Ioffe, A V Kozhevnikova, V D Zabinsky, D O Ivanov","doi":"10.14341/probl13541","DOIUrl":"10.14341/probl13541","url":null,"abstract":"<p><p>Thyroid hormone resistance (THR) syndrome is characterized by decreased sensitivity of peripheral tissues to active forms of thyroid hormones. We present a clinical case of a patient, demonstrating symptoms of hypothyroidism while having subnormal FT4 and normal TSH and total T3 levels. Massive parallel sequencing allowed us to identify a previously undescribed heterozygous THRA c.1198C&gt;G (p.Leu400Val) variant that arose de novo. The results of genetic testing corresponded well with the patient's phenotype that made it possible to verify the diagnosis of THR. Levothyroxine replacement therapy did not resulted in a significant clinical improvement; the use of supraphysiological doses led to refinement of the lipid profile but was accompanied by the appearance of some symptoms of thyrotoxicosis.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"62-67"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746749","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}