Problemy endokrinologii最新文献

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 (<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 (<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.

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>T(p.Q28X) in patient №1, not previously described variant c.469-1G>A in patient №2.

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.

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.

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>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.

Aim:  Analysis and assessment of the role of convolutional neural networks in the cytological diagnosis of the thyroid pathology, exploring their potential for increasing the accuracy and automation of diagnostic processes.

Methods:  Analysis of literature from Pubmed, Google Scholar and the scientific electronic library elibrary.ru using the keywords «thyroid», «cytology», «cytopathology», «fine-needle aspiration biopsy», «neural network» and «convolutional neural network». 12 articles published from 2018 to 2023 were selected for analysis.

Results:  The paper discusses the basic principles of the design of convolutional neural networks and the metrics that are used to assess their quality. An analysis of studies on the use of convolutional neural networks in the cytological diagnosis of the thyroid pathology was performed. According to the results, these neural networks classify pathological conditions with high accuracy and sensitivity, comparable to the work of an experienced cytologist. The accuracy of classification of papillary carcinoma can reach 99.7%. However, the lack of uniform standards for preparing images for training neural networks, the insufficient number of studies using multicenter data, and the narrow diagnostic range of available neural network models still limit the implementation of such AI systems in cytological diagnostic practice.

Conclusion:  The available research results on various options for using convolutional neural networks in the cytological diagnosis of the thyroid pathology have every chance of becoming the initiator of a serious paradigm shift in conventional cytopathology towards digital and computational cytopathology, in which the main functions will be performed by AI systems.

Research in recent decades has shown a steady increase in the average life expectancy of humans, and women in particular. Any epithelial tissue reacts to changes in the surrounding hormonal environment in a similar way, but none of them can compare with the epithelium of the vaginal vault and cervix in terms of the speed and clarity of reaction to hormones, primarily sex steroids. The urogenital tract is especially sensitive to a decrease in estrogen levels, and about half of all women, both in reproductive age and during hormonal changes, may experience symptoms associated with vulvovaginal atrophy, affecting sexual health and quality of life. Estriol is the main estrogen that specifically addresses problems caused by estrogen deficiency: dyspareunia, dryness and itching in the vagina and lower genitourinary tract, urinary disorders, moderate urinary incontinence, as well as recurrent vulvovaginitis and cystitis. According to international and Russian clinical guidelines, the prescription of 0.5 mg is pathogenetically justified with a high level of persuasiveness and reliability. Vulvovaginal dystrophy in women of different ages is a multidisciplinary problem at the intersection of gynecology, urology and dermatology, which can and should be solved to prevent more severe gynecological and urological pathologies.

Background: Usually, a hypoglycemic episode occurs due to inadequacy of the administered insulin dose in accordance with the current physiological situation. Activated systems aimed at increasing blood glucose levels serve as precursors of hypoglycemia and markers of the severity of hyperinsulinemia. Therefore, determining their components can serve as a more subtle and sensitive approach to assessing the physiological appropriateness of different insulin therapy options.

Aim: To investigate the markers (biochemical, clinical, and morphological) and the degree of activation of the stress system preceding the development of hypoglycemic episodes in patients with type 1 diabetes (T1D) undergoing insulin therapy.

Materials and methods: A cross-sectional observational clinical study was conducted involving 74 patients with type 1 diabetes (T1D). All patients underwent examination, which included assessment of the history of hypoglycemic episodes, quality of life using the SF-36 questionnaire, levels of adrenocorticotropic hormone (ACTH), insulin-like growth factor-1 (IGF-1), cortisol, C-reactive protein (CRP), coagulation profile, and 24-hour urinary cortisol excretion. Evaluation of patients' sleep characteristics was performed based on the results of completed questionnaires: Sleep Questionnaire and Epworth Sleepiness Scale. Patients underwent overnight polysomnography (PSG) with interpretation according to the AASM 2012 standards.

Results: Patients with a higher frequency of hypoglycemic episodes showed a decrease in IGF-1 levels at all stages (140 [123:162]; 98 [93:121], p=0.005), worse quality of life scores across all domains of the SF-36 questionnaire (95 [88:100]; 84 [77:92], p=0.001). As the frequency of hypoglycemic episodes increased, polysomnography data revealed an increase in the number of awakenings lasting more than 3 minutes (2 [1:3]; 3 [2:4]; p=0.03), increased time spent in bed (493.1 [463.95:513.4]; 536.2 [511.6:551]; p=0.03), increased sleep duration (437.5 [430.05:468]; 489 [471.5:519], p=0.006), and in creased total sleep time (382.5 [321.75:422]; 439 [409.5:486], p=0.008).

Conclusion: An increase in the frequency of hypoglycemic episodes should be accompanied by activation of the stress response system; however, repeated episodes of hypoglycemia lead to depletion of the stress response system, as evidenced by a decrease in the level of IGF-1 in patients with frequent hypoglycemic episodes. Hypoglycemic episodes occurring not only during night time but also at other times disrupt the sleep structure by increasing the frequency of nocturnal awaken ings.