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Congenital hypothyroidism (CH) being one of the most frequent thyroid disorder among children is etiologically heterogeneous. In this study various etiological forms of primary CH (ectopic thyroid gland, athyreosis, hypoplasia, dyshormonogenesis) were established by diagnostical algorithm. Complex approach with estimation of thyroid ultrasonography and scintigraphy (Tc-99m) data and the level of serum thyroglobulin allowed to differentiate ectopic thyroid gland and athyreosis. In the cases of eutopic gland additional examination was necessary. The most severe clinical symptoms and laboratory changes together with the lowest level of thyroglobulin were associated with agenesis. That could optimize the diagnostic approach. High occurrence of extrathyroidal congenital malformations was revealed in patients with ectopic gland and athyreosis and in their relatives. That could indicate that genetic factors influence on the forming of thyroidal dysgenesis.

Diffential diagnostics and genealogical features of congential hypothyroidism in childrens