Clinical guideline of «congenital hypothyroidism»

Петеркова, В. А.; Безлепкина, О. Б.; Shiryaeva, Tatyana; Vadina, T A; Nagaeva, Elena; Shreder, E. V.; Koņuhova, Marina; Makretskaya, Nina; Shestopalova, E A; Mitkina, V. B.

doi:10.14341/probl12880

Probl Endokrinol (Mosk)

2022

DOI: 10.14341/probl12880

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Clinical guideline of «congenital hypothyroidism»

В. А. Петеркова

О. Б. Безлепкина

Tatyana Shiryaeva

et al.

Abstract: 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.

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Cited by 3 publications

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Natural course of the congenital subclinical hypothyroidism does not affect physical and neuropsychiatric development of children

Kiiaev,

Slovak,

Udachina

et al. 2024

Clin Exp Thyroid

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Медико-генетический научный центр им. академика Н.П. Бочкова, Москва, Россия ОБОСНОВАНИЕ. Врожденный субклинический гипотиреоз -состояние, характеризующееся повышением уровня ТТГ на фоне нормальных показателей тиреоидных гормонов, выявленным в результате неонатального скрининга и сохраняющегося в процессе наблюдения. На сегодняшний день остается открытым вопрос влияния данного состояния на физическое и нервно-психическое развитие детей; кроме того, отсутствуют четкие показания для выбора терапевтической тактики и старта заместительной терапии. ЦЕЛЬ. Оценить влияние различных терапевтических подходов на нервно-психическое и физическое развитие детей с врожденным субклиническим гипотиреозом. МАТЕРИАЛЫ И МЕТОДЫ. Проведен сравнительный анализ показателей тиреоидного профиля, физического и нервно-психического развития среди двух групп детей с врожденным субклиническим гипотиреозом в зависимости от различных терапевтических подходов: динамическое наблюдение на фоне йодной профилактики и заместительная терапия левотироксином натрия. РЕЗУЛЬТАТЫ. В группе пациентов, получавших заместительную гормональную терапию, после проведения ретестирования и отмены терапии отмечается статистически значимое снижение показателей ТТГ по сравнению с изначальным, а также сохранение исходно нормального уровня свободного тироксина. Ни у одного из пациентов, включенных в исследование, не диагностировано развитие манифестного гипотиреоза в процессе динамического наблюдения. Между группами детей, находившихся на динамическом наблюдении и получавших заместительную гормональную терапию, не выявлено статистически значимых различий в показателях фактического роста, конечного прогнозируемого роста, индекса массы тела, а также нервно-психического развития. ЗАКЛЮЧЕНИЕ. Получены первые доказательства отсутствия влияния «повышенного» уровня ТТГ на нервно-психическое и физическое развитие детей с врожденным субклиническим гипотиреозом в процессе динамического наблюдения в течение как минимум первых четырех лет жизни, что, в свою очередь, дает врачу дополнительные аргументы при обсуждении выбора терапевтической тактики при врожденном субклиническом гипотиреозе у детей.

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Natural course of the congenital subclinical hypothyroidism does not affect physical and neuropsychiatric development of children

Kiiaev,

Slovak,

Udachina

et al. 2024

Clin Exp Thyroid

View full text Add to dashboard Cite

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Thyrotoxicosis in a patient with Turner syndrome: radioactive iodine therapy

Guseinova

Prosvirnina

Korchagina

et al. 2022

Probl Endokrinol (Mosk)

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Turner syndrome (TS) is a chromosomal disorder affecting female and characterized by complete or partial monosomy of the X chromosome. These genetic changes lead to the abnormalities in growth and development and increase the risk of autoimmune diseases, including those affecting the thyroid. Thyroid pathology in TS may include autoimmune thyroiditis, hypothyroidism, thyrotoxicosis (Graves disease, AIT in the hyperthyroid state).Thyrotoxicosis is the clinical syndrome of excess circulating thyroid hormones. One of the main causes of thyrotoxicosis is Graves’ disease (GD), an organ-specific autoimmune disease caused by the production of stimulating thyrotropin receptor antibodies. There are three treatment options for thyrotoxicosis: anti-thyroid drugs, radioactive iodine and thyroidectomy. A personalized approach to disease management is especially important in cases of genetic diseases.We present a clinical case of a patient with TS and GD, who has been referred to a radiologist at the Department of Radionuclide Therapy of Endocrinology Research Center. The patient was diagnosed with congenital hypothyroidism at neonatal screening, but thyroid hormones therapy was initiated aged three. Based on the survey, GD was diagnosed aged twenty one. Anti-thyroid drug therapy was started, which resulted in toxic hepatitis. Taking into account intolerance to anti-thyroid drugs, radioiodine therapy has been recommended, which led to hypothyroidism.

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Comparative analysis of reagent kits for DNA extraction from dry blood stains

Sedykh,

Saitgalina,

Ostankova

et al. 2023

Med. immunol.

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Neonatal screening is a mandatory newborn screening procedure that detects the presence of genetic diseases. Dry blood stains are used for mass screening of children. This technology is the most affordable and convenient for the transportation and storage of biological material. DNA extraction is one of the important steps in molecular diagnostics, the accuracy of which is particularly important in genetic analysis. Different DNA extraction kits offer different protocols and reagents, which may vary in efficiency and quality of extraction.The aim of our work was to perform a comparative analysis of reagent kits for DNA extraction from dried blood spots.The materials were dried blood drop samples on Guthrie cards obtained from healthy preterm infants on day 3-4 of life as part of a newborn screening program.The study methods included spectrophotometric analysis to determine the concentration and purity of DNA, the simplicity of protocols, the duration of isolation, and the possibility of automating the process were also evaluated. The efficiency of DNA isolation using different reagent kits was additionally monitored by real-time PCR results using a test system to assess the level of TREC and KREC in peripheral blood, since quantitative analysis requires more attention to the material under study.In assessing the purity of the nucleic acid extracted using four kits analyzed, successful deproteinization of DNA samples and relative purity could be observed. The average DNA purity for the “Extra-DNA-Bio” set was 2.2±0.23, for “EXTRA-prep PS” – 1.89±0.23, for “MagnoPrime UNI” with manual and automatic isolation – 2.31±0.21 and 2.85±0.09, respectively. The average DNA concentration for the Extra-DNA-Bio kit was 15.28 μg/mL, for the EXTRA-Prep PS kit it was 16.26 μg/mL, and for the MagnoPrime UNI for manual and automated isolation it was 62.5 μg/mL and 102.28 μg/mL, respectively. According to the applied Kraskell-Wallis criterion and Dunn’s test, significant differences in both TREC and KREC parameters are present between the group of DNA samples extracted using the “MagnoPrime UNI” reagent kit for manual extraction and the groups of samples extracted by other methods (“MagnoPrime UNI” for automatic extraction) or “Extra-DNA-Bio” and “EXTRA-Prep PS” kits.In the course of the present study, four comparable reagent sets demonstrated a high level of convergence of the obtained data, satisfying all the necessary parameters for further molecular genetic analysis, can be used for neonatal screening and in other areas of research requiring DNA extraction from a dried blood spots.

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Clinical guideline of «congenital hypothyroidism»

Cited by 3 publications

References 42 publications

Natural course of the congenital subclinical hypothyroidism does not affect physical and neuropsychiatric development of children

Natural course of the congenital subclinical hypothyroidism does not affect physical and neuropsychiatric development of children

Thyrotoxicosis in a patient with Turner syndrome: radioactive iodine therapy

Comparative analysis of reagent kits for DNA extraction from dry blood stains

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