JOURNAL OF THE CZECH PEDIATRIC SOCIETY AND THE SLOVAK PEDIATRIC SOCIETY

Čes-slov Pediat 2025, 80(4):173-176 | DOI: 10.55095/CSPediatrie2024/062

40 years of neonatal screening for congenital hypothyroidism

Eva El-Lababidi
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

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
El-Lababidi E. 40 years of neonatal screening for congenital hypothyroidism. Ces-slov Pediat. 2025;80(4):173-176. doi: 10.55095/CSPediatrie2024/062.
Download citation

References

  1. . Čížková-Písařovicová J. Štítná žláza - thyreoidea. In: Čížková-Písařovicová J. Klinická endokrinologie dětského věku. Praha: Státní zdravotnické nakladatelství 1954: 37-40.
  2. . Klein AH, Meltzer S, Kenny FM. Improved prognosis in congenital hypothyroidism treated before age three months. J Pediatr 1972; 81(5): 912-915. Go to original source... Go to PubMed...
  3. . Hníková O, Kračmar P. Kongenitální hypotyreóza. 1. vyd. Praha: Avicenum 1989.
  4. . Hníková O. Péče o děti s kongenitální hypotyreózou. Ces-Slov Pediat 1985; 40(11): 661-662.
  5. . Ford G, LaFranchi SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Pract Res Clin Endocrinol Metab 2014; 28(2): 175-178. Go to original source... Go to PubMed...
  6. . Van Trotsenburg P, Stoupa A, Léger J, et al. Congenital hypothyroidism: a 2020-2021 consensus guidelines update - an ENDO-European reference network initiative endorsed by the European society for pediatric endocrinology and the European society for endocrinology. Thyroid 2021; 31(3): 387-419. Go to original source... Go to PubMed...
  7. . https://www.novorozeneckyscreening.cz/souhrnne-vysledky
  8. . Metodický návod k zajištění novorozeneckého laboratorního screeningu a následné péče. In: Věstník Ministerstva zdravotnictví České republiky 2016; částka 6: 2-12.

This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits use, distribution, and reproduction in any medium, provided the original publication is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms.