Problemy endokrinologii最新文献

Background: Adrenal lesion characterization remains a diagnostic challenge due to overlapping imaging features. Dual-energy CT (DECT) shows promise for identifying image-based biomarkers but requires further validation.

Aim: To evaluate the diagnostic utility of DECT in differentiating adrenal lesions.

Materials and methods: This retrospective single-center study analyzed DECT data. Parameters from 40/70/80 keV virtual monoenergetic images and water-iodine/fat-iodine/water-fat decomposition maps were evaluated. Statistical analysis included Kruskal-Wallis, Mann-Whitney U, ROC tests.

Results: The cohort included 74 patients (median age 46.0 years (39.3-57.9), 48 women). For ACC and adenomas differentiation, mean 70 keV delayed phase attenuation showed the highest discriminative value (AUC=0.92; 95% CI: 0.81-1.00; p=0.001). For ACC and pheochromocytomas, standard deviation delayed phase water concentration (water-fat maps) achieved the highest diagnostic performance (AUC=0.89; 95% CI: 0.79-0.97; p=0.001). Maximum 70 keV delayed phase attenuation best distinguished adenomas from pheochromocytomas (AUC=0.82; 95% CI: 0.71-0.92; p<0.001).

Conclusion: DECT has proven its diagnostic value in the differential diagnosis of adrenal lesions.

Relevance: In Russia, there is a widespread risk of developing iodine deficiency disorders (IDD) due to insufficient iodine in the diet [1, 2]. The primary at-risk group, where the consequences of insufficient iodine in the diet are most severe, includes pregnant and breastfeeding women, as well as children aged 0 to 3 years [1, 3, 4].

The aim of the study: To assess the iodine sufficiency and consumption among the women in the first trimester of pregnancy living in areas of the Voronezh region with varying levels of iodine consumption.

Materials and methods: One hundred women in the first trimester of pregnancy living in areas of the Voronezh region were investigated. All the participants completed a questionnaire regarding the presence of diseases, medication intake, and nutrition. They were examined by an endocrinologist, had their thyroid gland palpated, underwent an ultrasound of the thyroid gland, and provided a single portion of daily urine (before 12:00), followed by the determination of iodine concentration in the urine and calculation of the median ioduria. An analysis of samples of table salt obtained from households was conducted to check for iodine (potassium iodate) using a rapid qualitative analysis method. Blood samples were taken to determine the levels of thyroid-stimulating hormone (TSH), antibodies to thyroid peroxidase (Anti-TPO antibodies), selenium, and zinc in the serum.

Results: The median ioduria was 87.35 (≥150) µg/l. The proportion of households using iodised salt was 23% (n=23). Moderate increased iodine intake was observed in 12% of women; appropriate iodine intake - 15%; and insufficient iodine intake - 73%. Only 23% of women use iodised salt, and 6% regularly take iodine-containing medications, indicating inappropriate iodine consumption and a near-complete absence of iodine prevention in the at-risk group for iodine deficiency diseases. The median TSH level was 1.19 mIU/l, which falls within the reference range (0.4-4 mIU/l). The median selenium concentration was 0.098 µg/ml, which also corresponds to the reference range (0.07-0.12 µg/ml), with no significant differences in selenium concentration found between residents of Voronezh and surrounding areas. According to the results of the ultrasound of the thyroid gland, signs of thyroid pathology (nodular and autoimmune combined) were identified in 55% (n=55) of the examined pregnant women.

Conclusion: Extremely low levels of iodised salt consumption in households have been identified and Iodine deficiency intake was found in pregnant women.

Background: Culler-Jones syndrome is a rare autosomal dominant disease caused by nucleotide sequence changes in the GLI2 gene. The prevalence of this pathology is unknown, as the number of observations is small, some carriers of variants in the GLI2 gene have no manifestations of the disease. The clinical phenotype of the disease is heterogeneous and includes hypopituitarism, malformations of internal organs, facial dysmorphisms, and polydactyly. Since the discovery of the GLI2 gene by Roessler E. et al. in 2003, the spectrum of clinical manifestations, as well as the understanding of the pathogenesis of the disease components, has expanded considerably. Incomplete penetrance has been described for the GLI2 gene, and the clinical phenotype of the disease differs even among members of the same family with the same nucleotide variant.

Aim: Study clinical and molecular genetic polymorphism in patients with Culler-Jones syndrome.

Materials and methods: A single-center, non-interventional, single-stage, non-comparative study was conducted. Children with Culler-Jones syndrome with a confirmed genetic cause of the disease were examined. All patients underwent a comprehensive examination, including laboratory and instrumental diagnostic methods and sequencing (by NGS (next-generation sequencing).

Results: 18 children (7 girls; 11 boys) with variants in the GLI2 gene were included in the study. The age at the time of examination was 8.95 years [4,6; 12.4]. Growth hormone deficiency was noted in all children at age of 2 years [1; 6,5]. Central hypothyroidism was diagnosed in 13 children at the age of 1.5 years [1; 3.5]. Free thyroxine level at the time of diagnosis was 8.9 pmol/L [7.5; 11.3]. Secondary hypoadrenocorticism was diagnosed in 10 children at the age of 2 years [1.5; 2.8], with a cortisol level of 84 nmol/L at the time of diagnosis [47; 152]. Extrahypophyseal manifestations characteristic of the syndrome were detected in half of the patients and included maxillofacial anomalies, malformations of the cardiovascular and urinary systems and eye malformations. Polydactyly was detected in two children.

Conclusion: The present study demonstrates the clinical polymorphism of Culler-Jones syndrome and the lack of genotype-phenotype correlation for this disease.

24-hydroxylase deficiency (or infantile hypercalcemia type 1) is an inherited disease associated with biallelic loss-of-function CYP24A1 mutations lead to impaired inactivation of vitamin D metabolites and characterised hypercalcemia, nephrocalcinosis and/or urolithiasis. We present 44 patients, the largest group (n=41) consisted of children. The main complaints at the time of examination was: weight loss, refusal to eat, delayed physical and/or psychomotor development, signs of urinary tract infection and/or nephrocalcinosis (in adults - urolithiasis). Hypercalcemia was detected in 88.6%, with Me 2.9 [2.65; 4.03] mmol/L. Me of the 25(OH)D3:24.25(OH)2D3 ratio was 340.65 [132.2; 630.75] (n=10). Hypercalciuria was detected in 59%, nephrocalcinosis or urolithiasis in 95% of cases. Frequent mutations in the CYP24A1 gene were p.Arg396Trp (66%) and p.Glu143del. (27%). Incidence of 24-hydroxylase deficiency in Russian population was 1:10900 estimated on the basis of these alleles of CYP24A1, overall carrier frequency for these mutations in CYP24A1 was 1 in 53 people. In conclusion, we propose to conduct molecular testing for the presence of pathogenic variants p.Arg396Trp and p.Glu143del in CYP24A1 during neonatal screening, due to the high expected frequency of 24-hydroxylase deficiency and heterozygous carriage of pathogenic variants of CYP24A1 in Russia.

22nd chromosome deletion syndrome (22q11.2 DS, del22q11.2) (with severe immunological disorders - Di Georg syndrome (SDH) or Di Giorgi syndrome (SDD)) It is one of the most common microdeletion syndromes.The disease is based on a violation of the formation of organs originating from the third gill arch.There is a full form of del22q11.2 syndrome with severe primary immunodeficiency (PID), congenital heart defects (CHD), hypoparathyroidism, facial skeletal abnormalities and high mortality during the first year of life, and partial forms without PID and calcium-phosphorus metabolism disorders.The high variability of clinical manifestations explains the fact that there are many different names of the disease in the literature: Di Giorgi syndrome (SDD), Di Georg syndrome (SDH), CATCH 22, velocardiofacial syndrome, Kyler syndrome, Sprintzen syndrome, facial and conotruncal abnormalities, etc.The term «Di Giorgi syndrome» is applicable to cases of deletion of 22q11.2 chromosome occurring with immune disorders. Despite the availability of genetic testing, many cases of 22q11.2 deletion syndrome remain undiagnosed due to its multsystem nature and varying severity of clinical manifestations, which is associated with a high risk of life-threatening complications.We present data from a 9-year-old patient with a partial form of deletion syndrome 22q11.2, when the reason for contacting an endocrinologist was the early appearance of secondary sexual characteristics against the background of decompensated primary hypothyroidism (Van Wyk-Grombach syndrome) in the absence of violations of phosphorus-calcium metabolism and PID.This clinical case demonstrates not only the variability of the clinical symptoms of the disease, but also the need for coordinated interaction of specialists from various specialties to diagnose polymorphic chromosomal pathology.

Background: Combined treatment of differentiated thyroid cancer (DTC) may have an impact on the reproductive health of patients, in particular on the ovarian reserve (OR) of childbearing-age women. However, knowledge in this area is still insufficient to create general recommendations and an algorithm for managing this cohort of patients based on their current reproductive status and desire to realize their reproductive potential.

Aim: To assess ovarian function and OR using anti-Müllerian hormone (AMH) and follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2) in dynamics in the early follicular phase in women of reproductive age receiving combined treatment for DTC.

Materials and methods: In a single-center prospective non-comparative study, the clinical and morphological, anamnestic and laboratory parameters of patients receiving combined treatment for DTC were analyzed. The levels of AMH, FSH, LH and E2 were determined in dynamics - after surgical treatment but no later than one month before radioiodine therapy (RAIT), as well as 3 and 6 months after RAIT on the background of suppressive therapy.

Results: A total of 39 women aged 18 to 40 years with a median age of 32 years [27; 37] undergoing combined treatment for DTC were enrolled in the study. The frequency of transient menstrual cycle disturbances after surgery was 18%, and after RAIT - 38%. According to the post-operative DTC status the majority of patients belonged to ATA intermediate-risk group (69%). In addition, 72% of patients received thyroid hormone withdrawal for a period of 4 weeks as a preparation for RAIT. The average activity of 131I was 3720 MBq [3050; 3838]. The levels of FSH and LH did not differ significantly before and after RAIT (R=NS). The level of E2 decreased significantly 3 months after RAIT (P<0.010), further increasing in 6 months to almost the initial values (P=NS). The level of AMH decreased significantly 3 and 6 months after RAIT compared with baseline values (P<0.001). The median AMH before the treatment was 4.10 ng/ml [2.34; 5.82], the nadir of AMH was observed after 3 months - 2.09 ng/ml [1.05; 3.05], and after 6 months AMH increased to 2.31 ng/ml [1.42; 3.37]. In 29% of patients, the AMH level decreased below the reference after 3 months. The predictor of AMH level below 1.2 ng/ml (reflecting reduced OR) 3 months after RAIT was the patient's age before RAIT. Using the Juden index, a cut-off point of 31 years was determined.

Conclusion: The level of AMH decreases significantly after RAIT for DTC, which indicates the effect of the therapy on OR, while age at the time of RAIT is the main predictor of AMH level below 1.2 ng/ml after 3 months.

This article presents a literature review on the topic of remission of severe neuroendocrine diseases due to adenoma apoplexy. The discussion addresses possible mechanisms underlying apoplexy in pituitary adenomas. Additionally, two clinical cases of spontaneous remission of acromegaly and Cushing's disease in patients hospitalized at Endocrinology research Centre for neurosurgical treatment are discussed. These cases highlight the need for thorough examination and retesting of patients with hormonally active tumors immediately prior to neurosurgical interventions.

This review is an abridged translation of selected chapters of the report "Prevention and control of iodine deficiency in the WHO European Region: adapting to changes in diet and lifestyle", published by the WHO Regional Office for Europe and the Iodine Global Network (IGN) in 2024. Iodine deficiency, especially mild iodine deficiency, remains a widespread problem in the WHO European Region. Since the last WHO report on iodine deficiency in the Region 15 years ago, much new data on iodine status has become available, especially for vulnerable populations. This review presents data on the iodine status of the population in 53 WHO European Member States (and Kosovo), the adverse effects of mild iodine deficiency and the effectiveness of salt iodization in preventing iodine deficiency. Mainly due to progress in salt iodization, the number of countries with iodine deficiency has decreased from 23 in 2003 to 2 in 2023. Mandatory salt iodization ensures adequate iodine intake in all population groups, with the exception of a few countries where these programs are poorly implemented. The positive cost-benefit ratio for preventing mild iodine deficiency in the European Region is plausible given the high prevalence of thyroid disease and the low cost of salt fortification programs.

This article traces the history of the development of radioiodine therapy (RIT) as one of the leading methods for treating thyroid disorders. The relevance of the topic is determined by the high efficacy of RIT in managing thyrotoxicosis and differentiated thyroid cancer, as well as the ongoing efforts to refine dosimetric strategies and molecular imaging techniques. Based on a systematic review of historical publications and monographs from 1923 to 2022, the study analyzes key milestones in the clinical implementation of iodine-131 - from the pioneering experiments of Hertz and Seidlin in the United States in 1937 to the widespread adoption of the method in the USSR beginning in the 1950s and its subsequent advancement at the National Medical Research Center for Endocrinology of the Ministry of Health of the Russian Federation. The reviewed literature highlights the significant contributions of Russian researchers to the formation of personalized theranostic approaches and underscores the need for further improvement in planning methods, dynamic treatment monitoring, and the broader expansion of radionuclide therapies for thyroid diseases.

Background: Currently, due to the lack of clear criteria for predicting the aggressive course of pituitary adenomas (APA), the search for diagnostic markers is highly relevant. Genetic markers, among others, may serve as such markers since their identification is possible at early stages of the pathological process.

Objective: To study the prevalence of genotypic polymorphisms G634C of the VEGFA gene (locus rs2010963), C/T of the TP53_2 gene (locus rs17884159), C/T of the HIF1A gene (locus rs11549465), and G-197A of the IL-17A gene in a sample of patients with APA and their association with the development of various clinical variants of the aggressive course of the disease.

Materials and methods: The study included 100 patients with a clinically confirmed diagnosis of pituitary adenoma (main group) and 83 practically healthy individuals (control group). The polymorphism of the studied genes was analyzed using allele-specific polymerase chain reaction (PCR) with SNP-Express reagent kits in real-time mode ("Sintol", Russia). The interpretation of the results was carried out using the "RotorGene" software of the PCR-RV device. The study also included general clinical, biochemical, and hormonal tests, as well as instrumental and neuroimaging methods, including magnetic resonance imaging (MRI) of the chiasmatic-sellar region and statistical analysis.

Results: The study showed that the heterozygous mutation (G/C) of the G634C VEGFA polymorphism was recorded in 21 cases (26%), and the homozygous mutation with a complete replacement of guanine (G) by cysteine (C) at position 634 (C/C) was detected in 4 cases. In patients with invasive pituitary adenomas (PA), the heterozygous variant (G/C) was twice as frequent - 32.7% (n=17) compared to the control group - 15.7% (n=13). The homozygous genotype (C/C) was also more frequently observed in patients with invasive PA growth - 7.7% (n=4) compared to the control group.The heterozygous variant (C/T) of the HIF1A gene was significantly more common (p=0.02) in patients with invasive adenomas compared to the control group: 25% (n=13) and 9.8% (n=8), respectively. In non-invasive PAs, this genotype was observed three times less frequently. The study of TP53_2 polymorphism (locus rs17884159) showed that in patients with invasive PAs, the frequency of the heterozygous variant (C/T) was significantly higher - 15.4% (n=8) compared to the control group - 4.8% (n=4).

Conclusion: The conducted genetic analysis of polymorphisms in the VEGFA, HIF1A, TP53_2, and IL-17A genes revealed significant deviations, confirming their practical significance in the early diagnosis of aggressive pituitary adenomas.