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.
View Article and Find Full Text PDFProbl Endokrinol (Mosk)
February 2022
Background: 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.
View Article and Find Full Text PDFCongenital 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.
View Article and Find Full Text PDFCognitive activity in 60-day-old offspring of rats (intrauterine development in experimental streptozotocin-induced diabetes) was studied on the model of food-seeking behavior under conditions of free choice in a 6-arm maze. The formation of the food-procuring skill was significantly delayed, which attests to impairment of cognitive functions in these animals. Peroral administration of afobazole (10 and 50 mg/kg) and betaine (50 and 100 mg/kg) significantly and dose-dependently alleviated this disorder.
View Article and Find Full Text PDFDNA comet assay showed that the level of DNA damage in the placental and embryonic tissues of rats with streptozotocin-induced diabetes mellitus increased on gestation days 14 and 20. Afobazole and betaine administered per os effectively decreased the level of genotoxic damage; afobazole was most efficient in doses of 10 and 50 mg/kg and betaine in a dose of 100 mg/kg.
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