Abstract
Aim. To demonstrate the prevalence and structure of thyroid diseases in children with Down syndrome (DS), and to analyze the features of their diagnosis and treatment. Key points. Thyroid gland pathology in DS includes congenital hypothyroidism (CH), subclinical hypothyroidism (SH), chronic autoimmune thyroiditis (CAT), and diffuse toxic goiter (DTG). Thyroid diseases are more common and occur earlier in individuals with DS than in the general population; their presence is independent of gender. SH is identified in 7–40% of patients with DS, but progresses to overt hypothyroidism in less than half of the cases. Various clinical guidelines recommend that patients with DS should have their thyroid-stimulating hormone (TSH) levels monitored regularly, every 6–12 months, and, if necessary, their free thyroxine and thyroid peroxidase antibodies. The treatment of CH, CAT, and DTG in DS patients is the same as in patients without DS. Most researchers advocate against levothyroxine therapy for SH, as there is no evidence of benefit from early treatment, and elevated TSH levels are often mild and transient. Conclusion. The high prevalence and wide spectrum of thyroid pathology in patients with DS necessitate regular monitoring of hormone levels. The complexity of interpreting isolated TSH elevation can complicate treatment decisions. In recent years, a more justified strategy of “watchful waiting” along with more frequent laboratory tests has become more prevalent. Keywords: Down syndrome, congenital hypothyroidism, subclinical hypothyroidism, autoimmune thyroiditis, diffuse toxic goiter (Graves disease).
Published Version
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