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: 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.

On June 26, 2025, a meeting of the expert working group was held in Moscow. The discussion focused on the personalized approach of tirzepatide («Tirzetta®») and semaglutide («Velgia Eco®») in patients with excess body weight, obesity, and type 2 diabetes. Following the meeting, the objective was set to develop a consensus-based algorithm for prescribing these drugs to ensure their effective use in Russian clinical practice.

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.

INTRODUCTION. Among the disorders of sex development (DSD) with karyotype 46,XY, there is a group of diseases caused by defects of androgen synthesis. The last stage of in the synthesis of androgens is the conversion of testosterone into a more active androgen dihydrotestosterone, which occurs under the influence of the enzyme 5α-reductase type II (SRD5A2). SRD5A2 deficiency is a rare disease with autosomal recessive inheritance.

AIM. To give a clinical and molecular genetic characterization of 14 new cases with confirmed molecular diagnosis of SRD5A2 deficiency, as well as 4 cases of DSD 46,XY, where monoallelic changes in the SRD5A2 gene were detected.

MATERIALS AND METHODS. The study included 310 patients with DSD 46,XY. Molecular genetic analysis was performed using the NGS method using a targeted panel for multiplex amplification and subsequent sequencing of the coding regions of the following genes: AKR1C2, AKR1C4, AMH, AMHR2, AR, ARX, ATRX, CBX2, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, EMX2, ESR2, FGD1, FGF9, FGFR2, FKBP4, FOXF2, FOXL2, HOXA13, HSD17B3, HSD3B2, ICK, LHCGR, LHX1, LHX9, MAMLD1, MAP3K1, MID1, NR0B1, NR5A1, POR, PTGDS, SOX9, SRD5A2, SRY, STAR, SUPT3H, TSPYL1, WNT4, WT1, ZFPM2.

RESULTS. By molecular genetic analysis 16 different variants were identified in the SRD5A2 gene (2 in several families), 4 of which had not been previously described.

CONCLUSION. The study highlights the importance of molecular genetic analysis in the differential diagnosis of DSD 46,XY.

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: 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.

Von Hippel-Lindau syndrome (FHL) is a rare autosomal dominant disease that leads to the formation of multiple organ tumor syndrome. The pathology is primarily caused by the inactivation of the VHL gene, which is located on chromosome 3 (3p25/26) and encodes ubiquitin ligase, which destroys hypoxia-induced factor-1α (HIF-1α). The genetic defect leads to the accumulation of HIF-1a protein, activating key carcinogenic pathways, and activated cytokines cause abnormal proliferation of tumor cells and oncogenesis. To date, more than 500 mutations have been registered in VHL. FHL syndrome is characterized by various tumors, including hemangioblastomas of the retina and central nervous system, pheochromocytomas, clear cell renal cell carcinoma, cystic adenoma and others. In the presented clinical description, pheochromocytoma was initially diagnosed in the patient’s mother, and 2 months later in the eldest son. Subsequently, the results of a molecular genetic study made it possible to verify the diagnosis, since in the gene in exon 3 of VHL, a single nucleotide was replaced in the heterozygous state of C.500 G>A, leading to the replacement of the amino acid p.R167Q. Identification of the VHL gene mutation required genetic counseling of all family members, during which a similar mutation was identified in the younger brother. Surgical treatment is the main method of treating FHL syndrome, but advances in genetic research technologies provide new opportunities for the treatment of tumors associated with this syndrome.

Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder associated with a lifelong increased risk of tumor development. Comprehensive monitoring of patients with NF1, involving a multidisciplinary team of specialists and the implementation of screening programs, is crucial for the early detection of associated pathological conditions that contribute to disability and reduced life expectancy. This article presents a clinical case of an adolescent female patient with tumor manifestations of NF1, in whom both diagnosed neoplasms — plexiform neurofibroma and pheochromocytoma, had a symptomatic course, significantly affecting her physical health and quality of life. A multidisciplinary approach and correct treatment led to favorable outcomes, enabling the patient to resume a normal lifestyle, despite the continuation of targeted therapy.

BACKGROUND: Currently, alternative minimally invasive methods for assessing the steroid profile in patients with congenital adrenal hyperplasia (CAH) are being actively developed. Saliva has proven to be a promising medium in a series of international studies. The use of saliva as an alternative minimally invasive biological material not only reduces the stress associated with venipuncture but also decreases the workload for medical staff, as saliva collection can be performed at home.

AIM: Evaluate the correlation between concentrations of steroid hormones in the blood and saliva in prepubertal and pubertal groups of patients with congenital adrenal hyperplasia using high-performance liquid chromatography with tandem mass spectrometric detection (HPLC-MS/MS).

MATERIALS AND METHODS: A prospective intervention study for diagnosing and disease compensation in 45 patients aged 3 to 17 years undergoing a routine inpatient examination with an established diagnosis of CAH (classic 21-hydroxylase deficiency). All children underwent a one-stage laboratory test at the National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation in October 2024.

RESULTS: In the prepubertal group (N=14), a strong positive correlation was found between serum and saliva for the concentration of 17OH-progesterone (p=<0.01; r=0.88), androstenedione (p=<0.001; r=0.84) and dehydroepiandrosterone (p=0.001; r=0.78). In the pubertal group (N=31), a strong positive correlation was found between serum and saliva for the concentrations of 17OH-progesterone (p=<0.01; r=0.94), androstenedione (p=<0.01; r=0.94), testosterone (p=<0.01; r=0.94), and progesterone (p=<0.01; r=0.79), as well as a moderate correlation for 21-deoxycortisol (p=0.003; r=0.52).

CONCLUSION: Most steroids used for diagnosis and monitoring the therapy in patients with CAH have a strong or moderate correlation between serum and saliva.

BACKGROUND. Secondary amenorrhea is a pathological condition that may develop as a result of either functional hypothalamic amenorrhea (FHA) or primary ovarian insufficiency (POI). In recent years, metabolomic studies in gynecology have gained importance for improving diagnostics, optimizing pharmacological treatment, and monitoring therapeutic outcomes. It is well established that cortisol production increases in response to chronic stress and relative energy deficiency syndrome. Therefore, it is reasonable to expect elevated cortisol levels in patients with functional amenorrhea associated with weight loss, which may adversely affect menstrual function.

OBJECTIVE. To investigate and compare the parameters of the multicomponent blood steroid profile (multisteroid analysis), including androstenedione, corticosterone, testosterone, cortisol, cortisone, and dehydroepiandrosterone (DHEA), in patients with secondary amenorrhea of different origins (FHA, POI), and to identify alterations in target markers using high-performance liquid chromatography coupled with tandem mass spectrometry (HPLC-MS/MS).

MATERIALS AND METHODS. A single-center cross-sectional comparative study was conducted involving two populations of women aged 18–39 years: (1) patients with secondary amenorrhea of various origins (FHA, POI) (n=120), and (2) healthy women (n=34). Blood steroid profile parameters were assessed using HPLC-MS/MS.

RESULTS. A total of 154 women were examined. The lowest corticosterone levels were observed in the POI group — 3.95 nmol/L [2.4; 5.7] (p<0.0001). No statistically significant differences were found between other groups. Hypercortisolemia was not detected in any of the study participants, nor were there significant differences in cortisol, cortisone, or DHEA levels between groups.

CONCLUSION. In this study, based on a targeted quantitative analysis of steroid hormones, their precursors, and metabolites using HPLC-MS/MS technology, we characterized the features of the blood steroid profile in patients with secondary amenorrhea. The profile demonstrated similar characteristics across all amenorrhea types, regardless of etiology, suggesting a common underlying mechanism. However, the observed decrease in corticosterone levels in POI patients and the absence of hypercortisolemia in FHA women are of particular interest and warrant further investigation.