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[Congenital hypothyroidism: organization and coordination of neonatal screening in Italy]
S Carta1, M E Grandolfo, L Moschini
1Laboratorio di Metabolismo e Biochimica Patologica, Istituto Superiore di Sanità, Roma.
Insights
Congenital hypothyroidism, a common infancy endocrine disease, causes severe developmental issues, especially in the central nervous system. Early diagnosis via neonatal screening prevents mental retardation, with this report detailing Italy
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Public Health
Context:
- Congenital hypothyroidism (CH) is the most common endocrine disorder in infants.
- It results from a primary deficiency in thyroid hormones.
- Untreated CH can lead to widespread organ damage, particularly impacting central nervous system development.
Purpose:
- To highlight the critical importance of early diagnosis for preventing developmental deficits.
- To present the current status of neonatal thyroid screening programs in Italy.
- To discuss national coordination efforts in congenital hypothyroidism screening.
Summary:
- Neonatal thyroid screening is essential for the early detection of congenital hypothyroidism.
- Prompt initiation of thyroid hormone replacement therapy is crucial.
- This report details the progress and national coordination of screening initiatives in Italy.
Impact:
- Early detection and treatment of CH prevent severe intellectual disability.
- Effective screening programs safeguard infant neurodevelopment.
- National coordination enhances the efficiency and reach of CH screening.
Abstract:
Congenital hypothyroidism (IC) is the most frequent endocrine disease of the infancy and it is caused by primary deficiency of thyroid hormones. The damages derived by protracted hormone deficiency are diffused to all organs and systems and particularly severe for the development of central nervous system. Mental retardation can be prevented by early diagnosis and therapy. Early diagnosis is assured by neonatal thyroid screening performed on all newborns in the first days of life. The progress report on the screening situation in Italy as well as the national coordination realized in this field are presented.