Tatiana A. Vadina

BACKGROUND : Childhood overweight and obesity are associated with diseases in adulthood: metabolic syndrome, type 2 diabetes, coronary heart disease, hypertension, and some types of cancer. In 2006, WHO initiated the European Childhood Obesity Surveillance Initiative (COSI), according to which a survey of Moscow first-graders was conducted in 2017. The publications of the Initiative participants presented general characteristics of the Russian sample along with similar indicators of other countries participating in the Initiative, while the collected Russian data allow for a more detailed analysis. AIM : To characterize the nutrition of 7-year-old children in Moscow at home and at school. MATERIALS AND METHODS : The epidemiological study was conducted at the National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation in 2017 as part of the COSI program. The study included 7-year-old children studying in one of the first grades of 68 randomly selected Moscow schools. The study was conducted in accordance with the COSI study protocol; parent and school questionnaire forms were filled in. RESULTS : The study included 2,166 7-year-old children (1,068 boys and 1,098 girls). At home, 82% of children receive fresh fruit daily or 4–6 times a week, 72% receive vegetables, 64% receive dairy products, and 81% receive meat. 37% of children never receive soft drinks with added sugar, 62% — flavored milk, 79% — diet or "light" soft drinks, 55% — low-fat milk, and 29% — whole fat milk. 46% of children receive fish 1–3 times a week. At school, water is freely available for 86% of children, tea for 35%, fresh fruit for 67%, and vegetables for 55% of children. For 61% of children, a course on rational nutrition is conducted at school, or this topic is presented as a separate lesson, or is integrated into other educational activities. Two thirds of children at school are free from exposure to advertising and marketing. CONCLUSION : For the first time, detailed results of an epidemiological study of 7-year-old children in Moscow under the COSI program are presented: assessment of the frequency of consumption of various food products at home and at school.

BACKGROUND: Overweight and obesity in children are associated with diseases in adulthood: metabolic syndrome, type 2 diabetes mellitus, coronary artery disease, hypertension, and some types of cancer. In 2006, WHO initiated the European Childhood Obesity Surveillance Initiative COSI, according to which a survey of Moscow first-graders was conducted in 2017. The Initiative’s publications provided general characteristics of the Russian sample along with those of other countries participating in the Initiative, while the collected Russian data allowed for analysis that is more detailed.AIM: To characterize the population of 7-year-old children in Moscow based on anthropometric parameters and lifestyle indicators.MATERIALS AND METHODS: An epidemiological study was conducted at the National Medical Research Center for Endocrinology of the Russian Ministry of Health in 2017 as part of the COSI program. We examined 7-year-old children studying in one of the 1st grade 68 randomly selected Moscow schools. The study was carried out in accordance with the COSI study protocol, and child, parent and school questionnaire forms were completed. WHO and International Obesity Task Force (IOTF) criteria were used to assess body weight.RESULTS: 2166 children aged 7 years (1068 boys and 1098 girls) were examined. In total, 24.42% of children are overweight or obese according to WHO criteria, 95% CI (22.63%; 26.29%), according to IOTF criteria — 19.21%, 95% CI (17.57%; 20. 93%). 3.0% of children (2.3%; 3.8%) are underweight according to WHO criteria, 2.8% (2.2%; 3.6%) are underweight according to IOTF criteria. The median duration of breastfeeding, (BF) is 8 months, exclusive breastfeeding is 4 months. No relationship was found between the duration of breastfeeding and the child’s weight. Fathers’ BMI is higher than mothers’ BMI. Parents more often believe that their child is normal or underweight than is actually observed. About 2/3 of children go to school on foot or by mechanical transport, participate in sports or dance sections, and spend 1–2 hours a day in outdoor games on weekdays. The duration of reading and preparing lessons on weekdays and weekends does not differ, while the duration of walks on weekends is higher. Screen time on weekends is almost double that on weekdays.CONCLUSION: For the first time, detailed results of an epidemiological study of 7-year-old children in Moscow under the COSI program are presented: assessments of weight, height and other anthropometric indicators, as well as the results of a survey of parents regarding their anthropometric parameters, family history, and children’s lifestyle.

Thyroiditis in children are important issues of pediatric endocrinology due to their widespread occurrence. They differ in etiology, pathogenesis, and their clinical manifestations. Updated clinical guidelines in 2024 are the main working tool of physicians. They briefly and structurally present the main information about epidemiology and modern classification of thyroiditis, methods of diagnosis and treatment based on the principles of evidence-based medicine.

Congenital hypothyroidism (CH) is an important issue of pediatric endocrinology. Early detection of this disease and timely initiation of treatment can prevent the development of severe mental retardation. Neonatal screening for CH in Russian Federation has been conducted since 1993. Updated in 2024 clinical guidelines are the main tool of a physicians. They briefly and structurally present main information about congenital hypothyroidism, its epidemiology and modern classification, methods of diagnosis and treatment, based on the principles of evidence-based medicine.

BACKGROUND: Loss-of-function mutations in the TSH receptor gene (TSHR) (NP_000360.2) are the potential causes of thyroid dysgenesis in patients with congenital hypothyroidism. Heterozygous variants of the TSHR gene lead to partial resistance to TSH, homozygous and compound heterozygous variants have been shown to cause CH due to thyroid hypoplasia or TSH resistance. Recently more and more articles in this field have appeared in the international literature sources, while local publications are limited. The studies are necessary to understand the etiology, pathogenesis of the disease, to improve the management of these patients.AIM: To assess the frequency of incidence of pathogenic variants of the TSHR gene in children with CH due to thyroid dysgenesis. To study inheritance and phenotypic patterns of CH in families.MATERIALS AND METHODS: In this single-center interventional one-stage non-comparative study a group of CH patients was examined. The patients underwent neck ultrasound and radionuclide imaging. The examination was performed 14 days after hormone replacement therapy suspension or prior to its initiation. The structure of thyroid dysgenesis was estimated, genetic testing for mutations in the TSHR gene was performed using the NGS method.RESULTS: The study included 95 children with primary CH (75 girls; 20 boys). The patients’ median age at the time of examination was 6.2 years [4.5; 8.9], the median level of neonatal TSH was 157.5 mU/l [60.9; 257.2]. Ectopic thyroid was found in 52% of children, aplasia in 36%, hypoplasia and hemiagenesis in 10% and 2%, respectively. In 5.4% of cases (in 5 out of 95 patients), different variants of the TSH gene were detected. Two children had heterozygous p.R450H and p.D487N variants in TSHR gene, two patients was homozygous for the p.S49Afs * 9 variant, one child had compound heterozygous variants (p.A485D and p.R450H). According to ultrasound imaging, all patients had thyroid hypoplasia of varying severity. Three children underwent thyroid scintigraphy, which revealed decreased ^99mТc pertechnetate uptake (0.3–0.9%).CONCLUSION: In our study, the incidence of different variants in the TSHR gene in children with CH was 5.3%. Our analysis uncovered two previously undescribed variants. Genetic testing may be able to help with making the diagnosis, patient’s management, and genetic counseling.

BACKGROUND: The frequency of ectopia of thyroid gland among all types of dysgenesis varies from 30 to 70%, its most common localization is the root of the tongue. Otorhinolaryngologists, oncologists, pediatricians can take lingual ectopia for hypertrophy of the lingual tonsil or fibroma of the tongue root, which leads to unreasonable surgical treatment. Thyroid scintigraphy plays a key role in the diagnosis of ectopia.AIM: To assess the etiological structure of congenital hypothyroidism (CH) and demonstrate the clinical course in patients with ectopic thyroid tissue in the root of the tongue.MATERIALS AND METHODS: A group of patients with CH was examined. All patients underwent neck ultrasound and radionuclide imaging. The examination was carried out against the background of the abolition of hormone replacement therapy for 14 days or before its initiation. Patients with ectopia in the root of the tongue underwent videofibrolaryngoscopy. Some patients underwent a genetic study with using genes panel of a panel of candidate genes responsible for the development of CH using the NGS method. The molecular genetic study was conducted to some patients, next-generation sequencing with the genes panel.RESULTS: The study included 73 patients with primary CH aged from 2 weeks to 17.3 years: 69 children were diagnosed based on the results of neonatal screening, 4 children with thyroid ectopia were first examined older than 6 years. The median age of patients at the time of the examination was 6.9 years [4.8; 10.0]. By data of ultrasound aplasia was diagnosed in 47.9% of patients, one child had hemiagenesis and ectopic thyroid tissue of various localization was detected in 26.0% of children. In 24.7% of children thyroid tissue was found in a typical location. Scintigraphy confirmed thyroid aplasia in 65.7% of children. Examination revealed various variants of ectopically located thyroid tissue in 31 children (42.4%): thyroid ectopia in the root of the tongue in 25 children (80.6%), ectopia in the sublingual region in 5 children (16.2%), double ectopia was detected in 1 child. The median level of TSH in newborns with ectopic thyroid gland was 124 IU/ml and was significantly lower than in children with aplasia — 219 IU/ml, p<0.05. On the other side the level of TG in children with ectopia was significantly higher than in children with aplasia — 37.12 ng/ml versus 0.82 ng/ml, p< 0.05.CONCLUSION: Combination of two methods is the best diagnostic approach to determine the etiology of CH — ultrasound and scintigraphy studies compensates deficiencies of each other. Our study demonstrates the importance of scintigraphy in children with CH and patients with the formation of the root of the tongue and the anterior surface of the neck in order to avoid unnecessary removal of the thyroid gland. In case of confirmation of thyroid ectopia in the root of the tongue and in the absence of symptoms of obstruction or bleeding, it is recommended to refer the patient to an endocrinologist for conservative treatment.

The thyroiditis in children are urgent problem of pediatric endocrinology due to the widespread occurrence and characterized by clinical and pathogenetic heterogeneity. The developed clinical guidelines are the main working tool of the practitioner. They briefly and structurally present the main information about the epidemiology and modern classification of thyroiditis, methods of their diagnosis and treatment based on the principles of evidence-based medicine.

Background DUOXA2 mutations in patients with congenital hypothyroidism (CH) was first described in 2008 as rare cause of CH. mRNA of DUOXA2 is expressed predominantly in thyroid and less in salivary glands. Human DUOXA2 gene is located on 15q21.1 and inherited in an autosomal recessive pattern. In most cases DUOXA2 gene mutations were described in patients with thyroid dishormonogenesis. Last investigations conferred DUOXA2 susceptibility to thyroid dysgenesis (TD). Methods Twenty one genes related to CH (AITD3, DUOX2, DUOXA2, DUOX1, FOXE1, FOXE2, GLIS3, GLIS4, GNAS, IYD, NKX2–1, NKX2–5, PAX8, SECISBP2, SLC16A2, SLC26A4, SLC5A5, THRA, THRB, TPO, AITD4) were sequenced and screened for variations by next-generation sequencing (NGS) in this family. Case report 1 patient: adult 24 yrs. female with congenital hypothyroidism caused by thyroid dysgenesis. Neonatal TSH was 173.7 mU/l, serum TSH – 301.1 mU/l. She was followed in endocrine research center from infancy. Ultrasound imagines did not reveal thyroid tissue, thyroglobulin was low (less 0.1 ng/ml). She gave birth to a baby at 24. The pregnancy proceeded normally and the delivery was without complications. 2 patient (proband): daughter of patient 1, five weeks aged, with no signs of hypothyroidism in neonatal period. Neonatal screening conducted on the third day of life. TSH was slightly increased to 9.5 mU/l and 22 mU/l on 3d and 14th day, respectively. Before onset of therapy, serum TSH was increased to 78 mU/l and fT4 decreased to 7.5 pmol/l, serum thyroglobulin level was high as 125 ng/ml (reference range 0–50). Ultrasound imaging did not show thyroid gland in typical position of the neck, during following investigation thyroid tissue was found near the hyoid bone. Heterozygous novel variant mutation c.552A > G:p.L184L in DUOXA2 (NM 207581.4) was detected in mother and proband with thyroid dysgenesis. Conclusions We report a novel heterozygous DUOXA2 mutation in the family with thyroid dysgenesis (mother and daughter). Homozygous DUOXA2 mutations described in patients with thyroid dyshormonogenesis. However last investigations revealed heterozygous mutations in DUOXA2 gene in TD patients. The significance of our heterozygous mutation remains unknown and require further researching.

Iodine deficiency disorders is a sweeping term that includes structural and functional impairment of the thyroid gland.These clinical guidelines include algorithms for the diagnosis and treatment of euthyroid goiter and nodular/ multinodular goiter in adults and children. In addition, these clinical guidelines contain information on methods for an adequate epidemiological assessment of iodine deficiency disorders using such markers as the percentage of goiter in schoolchildren, the median urinary iodine concentration, the level of neonatal TSH, the median thyroglobulin in children and adults. As well from these clinical guidelines, you can get to know the main methods and groups of epidemiological studies of iodine deficiency disorders.

Background. Neonatal screening for congenital hypothyroidism (CH) allows the timely diagnosis of disease and onset of replacement therapy. Analytical research in the field of health care provides the basis for making managerial decisions, in particular by public authorities. Objective — the study objective was to analyze the results of neonatal screening for congenital hypothyroidism in the Russian Federation. Material and methods. We analyzed reports of local health authorities (LHAs) on the results of activities of regional medical and genetic services, which were monthly submitted to the Ministry of Health of the Russian Federation. The reports included the number of newborns, examined newborns, and newly diagnosed CH cases. Results. According to the results of neonatal screening, the rate of CH detection in the Russian Federation was 1 case per 3,617 newborns (maximum, 1 per 2379; minimum, 1 per 4752 in different federal districts). The coverage of neonatal screening for CH in the Russian Federation varies by years and regions, from 67.9% (1997) to 99.8% (2012) and from 81.7% (North Caucasian Federal District) to 99.9% (Central Federal District). With the percentage of newborn screening coverage more than 70%, each additional coverage percent results in detection of 6—7 new CH cases. Conclusion. The conducted analysis indicates the need for further studying the features of congenital hypothyroidism incidence in different regions of the Russian Federation and improving organizational processes of neonatal screening for CH.