Diagnostics, treatment and prognosis of congenital hypothyroidism

Česká verzia

Authors: E. Al Taji
Authors place of work: Klinika dětí a dorostu, 3. lékařská fakulta Univerzity Karlovy a Fakultní nemocnice Královské Vinohrady, Praha
Published in the journal: Čes-slov Pediat 2018; 73 (3): 158-164.
Category: Review

Věnováno památce paní profesorky MUDr. Jiřiny Čížkové-Písařovicové, DrSc. (1908–1994) a paní profesorky MUDr. Olgy Hníkové, CSc. (1931–2017)

Summary

Congenital hypothyroidism is the most frequent inborn endocrine disorder and the most frequent disease diagnosed by nation-wide newborn screeening. 80–85% of permanent cases is caused by a defective thyroid development – thyroid dysgenesis. Remaining cases are caused by defects of thyroid hormone biosynthesis – dyshormonogenesis. Early and adequate substitution treatment together with a good family compliance are the main factors playing role in psychomotor, mental and somatic development of the majority of children with congenital hypothyroidism.

Key words:
congenital hypothyroidism, neonatal screening, substitution treatment, thyroid dysgenesis, dyshormonogenesis

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