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Three years of experience of the congenital hypothyroidism National Register
M Sorcini1, M E Grandolfo, C Fazzini
1Istituto Superiore di Sanità, Laboratorio di Metabolismo e Biochimica Patologica, Roma, Italy.
Insights
Neonatal thyroid screening prevents intellectual disability from congenital hypothyroidism. Italy
Area of Science:
- Endocrinology
- Pediatrics
- Public Health
Background:
- Congenital hypothyroidism (CH) can lead to irreversible intellectual disability if not treated early.
- Neonatal screening programs are crucial for timely diagnosis and intervention.
- Early diagnosis and therapy are essential for preventing developmental deficits associated with CH.
Purpose of the Study:
- To report the analysis of data collected in the first three years of the Italian National Register of children affected by CH.
- To evaluate the effectiveness and coverage of neonatal thyroid screening in Italy.
Main Methods:
- Analysis of data from the Italian National Register of children with CH.
- Review of screening data from regional centers across Italy.
- Assessment of screening coverage of the neonatal population.
Main Results:
- In 1989, Italian regional centers screened over 82% of the neonatal population.
- A National Register for CH was established in 1987.
- Data from the first three years of the register were analyzed.
Conclusions:
- Neonatal thyroid screening in Italy has achieved high coverage.
- The National Register provides valuable data for monitoring and improving CH management.
- Early detection and treatment through screening are vital for preventing mental retardation in CH patients.
Abstract:
Mental retardation caused by congenital deficiency of thyroid hormones can be prevented by early diagnosis and therapy which are assured by neonatal thyroid screening. Congenital hypothyroidism screening is performed in Italy by regional centres which in 1989 have screened more than 82% of neonatal population. Since 1987 a National Register of children affected by CH has been instituted. The results of the analysis of data collected in the first three years are reported.