Čes-slov Pediat 2025, 80(4):173-176 | DOI: 10.55095/CSPediatrie2024/062
40 years of neonatal screening for congenital hypothyroidism
- Klinika dětí a dorostu, Fakultní nemocnice Královské Vinohrady, 3. lékařská fakulta, Univerzita Karlova, Praha
- Centrum pro výzkum výživy, metabolismu a diabetu, 3. lékařská fakulta, Univerzita Karlova, Praha
Congenital hypothyroidism is the most frequent inborn endocrine disorder and also the most frequent disease diagnosed
by newborn screening. Nation-wide neonatal screening for congenital hypothyroidism was introduced in the Czech Republic 40 years ago. This article summarises its history and the present as well. Despite the fact that early diagnostics and immediate substitution treatment with levothyroxine are the main factors playing role in psychomotor, mental and somatic development of the majority of
children with congenital hypothyroidism, more than 70 percent of babies worldwide are not born in the area with established neonatal screening.
Keywords: congenital hypothyroidism, dry blood spot, neonatal screening
Received: November 1, 2024; Revised: November 1, 2024; Accepted: November 4, 2024; Published: July 1, 2025 Show citation
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