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.

Ежегодно в Институт детской эндокринологии ГНЦ ФГБУ «НМИЦ эндокринологии» Минздрава России госпитализируется более 5,5 тысяч детей и подростков из всех регионов РФ с различными эндокринными заболеваниями. С целью аккумуляции уникальных данных для дальнейшего клинико-эпидемиологического мониторинга этих пациентов разработана структура единой ЭНДОКАРТЫ учета 7 нозологий, внедренная в медицинскую информационную систему (МИС) ГНЦ ФГБУ «НМИЦ эндокринологии»: опухоли гипоталамо- гипофизарной области, первичный гиперпаратиреоз, хронический гипопаратиреоз, гипогликемический синдром, гонадотропинзависимое преждевременное половое развитие, низкорослость и врожденная дисфункция коры надпочечников (ВДКН). ЦЕЛЬ: оценить структуру патологии редких эндокринных заболеваний у лиц детского возраста (менее 18 лет), госпитализированных в ГНЦ ФГБУ «НМИЦ эндокринологии». МАТЕРИАЛЫ И МЕТОДЫ: объект исследования - база данных ГНЦ ФГБУ «НМИЦ эндокринологии» Минздрава России детей в возрасте от 0 до 18 лет. Детская Эндокарта начала функционировать с декабря 2020 года. Анализ выполнен по данным выгрузки от 15.01.2023. РЕЗУЛЬТАТЫ: регистр первичного гиперпаратиреоза включает 18 детей (8 мальчиков, 10 девочек), средний возраст составляет 16 лет. При первичном обращении у 8 детей (44,5%) наблюдалось мани- фестное течение первичного гиперпаратиреоза, у 10 (55,5%) пациентов мягкое течение. В группе па- циентов в активной фазе заболевания медианы паратгормона и общего кальция составили 131,7 пг/мл и 2,89 ммоль/л соответственно. Всем детям было проведено хирургическое лечение и достигнута ремиссия. Регистр опухолей гипоталамо-гипофизарной области включает данные о 38 детях (17 мальчиков, 21 де- вочка), средний возраст 14 лет. Болезнь Иценко-Кушинга имелась у 11 (29%) пациентов, другие аденомы гипофиза (пролактиномы, СТГ-продуцирующие аденомы и другие) встречались у 27 (71%) пациентов, из них большая часть составили пролактиномы – 22 ребенка. Регистр хронического гипопаратиреоза содержит сведения о 19 пациентах (12 мальчиков, 7 девочек), средний возраст 11 лет, из данной группы пациентов АПС 1 типа имелся у 5 (26%) детей, послеоперацион- ный гипопаратиреоз и наследственный гипопаратиреоз (за исключением АПС 1 типа) - у 4 (21%) пациентов и 3 (16%) пациентов соотвественно . Регистр детей с гипогликемиями включает сведения о 192 ребенке (106 мальчиков, 86 девочек), сред- ний возраст 4 года. Из них у 107 (56%) пациентов имелся врожденный гиперинсулинизм, подтвержденный молекулярно-генетическим исследованием. Регистр гонадотропинзависимого преждевременного полового развития включает данные 130 детей (28 мальчика, 102 девочки), средний возраст 8 лет. Средний возраст начала заболевания - 6 лет. Терапию аналогами ЛГ-РГ получают 76 детей (58,6 %), костный возраст которых статистически значимо опережал хронологический (10 лет vs. 6 лет, p<0,001). Регистр низкорослости включает данные о 354 пациентах (240 мальчик, 114 девочек), средний возраст 11 лет. Структура нозологии: гипопитуитаризм – 217 (61%) пациентов, другие варианты низкорослости (в том числе идиопатическая задержка роста, синдром Шерешевского-Тернера и другие синдромальные формы) – 137 (39%) пациент. Регистр пациентов с ВДКН включает 82 ребенка (29 мальчиков, 53 девочки), средний возраст 5 лет. В 80,5 % (n = 66) заболевание связано с дефицитом 21-гидроксилазы, у 19,5 % (n = 16) детей ВДКН ассоциирована с нарушением синтеза других ферментов стероидогенеза (11b-гидроксилазы, 3b-гидроксистероиддегидрогеназы и пр.).ВЫВОДЫ: ГНЦ ФГБУ «НМИЦ эндокринологии» Минздрава России аккумулирует экспертное мне- ние по проблеме орфанных эндокринных заболеваний детского возраста в Российской Федерации. Организация структуры системы учета редких эндокринопатий позволит оценить структуру и клинико- эпидемиологические характеристики данных нозологий, распределение по регионам РФ, провести ана- лиз эффективности терапии, что послужит научно-практической основой совершенствования оказания помощи по профилю «детская эндокринология».

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. ><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.

Congenital hypothyroidism is an important issue of pediatric endocrinology at which timely diagnosis and treatment can prevent the development of severe cases of the disease. The developed clinical guidelines are a working tool for a practicing physician. The target audience is pediatric endocrinologists and pediatricians. They briefly and logically set out the main definition of the disease, epidemiology, classification, methods of diagnosis and treatment, based on the principles of -evidence-based medicine.

56 IV (XXVII) Национальный конгресс эндокринологов с международным участием «ИННОВАЦИОННЫЕ ТЕХНОЛОГИИ В ЭНДОКРИНОЛОГИИ» 22-25 сентября 2021 года СТРУКТУРА РЕГИСТРОВ ЭНДОКРИННЫХ ЗАБОЛЕВАНИЙ Мокрышева Н .Г .

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.

СБОРНИК ТЕЗИСОВ XVII Российская научно-практическая конференция детских эндокринологов «Достижения науки в практику детского эндокринолога» РОЛЬ НЕПРЕРЫВНОГО МОНИТОРИРОВАНИЯ ГЛИКЕМИИ В КОМПЕНСАЦИИ САХАРНОГО ДИАБЕТА 1 ТИПА У ДЕТЕЙ И ПОДРОСТКОВ В 2019-2020 ГГ. Т.А. Вадина

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.

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.