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Incidence of Congenital Hypothyroidism Over 37 Years in Ireland
Niamh McGrath1,2, Colin P Hawkes3, Ciara M McDonnell1
1Department of Paediatric Endocrinology and.
Insights
The incidence of congenital hypothyroidism (CHT) has significantly increased in Ireland over 37 years. This rise in detected CHT cases occurred despite a consistent newborn screening protocol.
Area of Science:
- Pediatrics
- Endocrinology
- Public Health
Background:
- Congenital hypothyroidism (CHT) is a primary cause of preventable learning disabilities.
- Newborn screening for CHT in Ireland began in 1979 using a consistent protocol.
- The study examines CHT incidence over 37 years within a complete national population.
Purpose of the Study:
- To determine the incidence of CHT in the Republic of Ireland from 1979 to 2016.
- To analyze trends in CHT detection over a 37-year period.
- To investigate potential factors influencing CHT incidence changes.
Main Methods:
- Reviewed newborn screening records for CHT diagnoses between 1979 and 2016.
- Included infants diagnosed with CHT based on thyroid-stimulating hormone (TSH) levels.
- Analyzed screening data from over 2.3 million infants.
Main Results:
- Identified 1063 cases of CHT, with an overall incidence of 0.45 per 1000 live births.
- Detected CHT incidence rose from 0.27/1000 (1979-1991) to 0.65/1000 (2005-2016).
- Increased detection was primarily in infants with normal or hyperplastic thyroid glands.
Conclusions:
- The incidence of CHT has significantly increased in Ireland over 37 years.
- This increase occurred despite an unchanged newborn screening protocol and cutoff.
- The rise is not attributable to improved preterm infant survival or population changes.
Background And Objectives:
Congenital hypothyroidism (CHT) is one of the most common preventable causes of learning disability. Newborn screening with whole-blood thyroid-stimulating hormone measurements was introduced in the Republic of Ireland in 1979 and is coordinated from a single center with an unchanged protocol since its inception. Our objective in this study was to describe the incidence of CHT in the Republic of Ireland over the past 37 years in the context of a complete national population and an unchanged screening protocol.
Methods:
The newborn screening records of all individuals who were diagnosed with CHT between 1979 and 2016 were reviewed. Infants with positive screening results had a whole-blood thyroid-stimulating hormone value of ≥15 mU/L at 72 to 120 hours of life; values of 8 to 15 mU/L required a repeat whole-blood screening test.
Results:
Of 2 361 174 infants who were screened between July 1979 and December 2016, 1063 (662 girls) were diagnosed with CHT (incidence: 0.45 cases per 1000 live births). The number of detected cases increased from 0.27 cases per 1000 live births treated between 1979 and 1991 to 0.41 cases per 1000 live births treated between 1992 and 2004 to 0.65 cases per 1000 live births treated between 2005 and 2016. The increase in detected cases of CHT was predominantly in the normal or hyperplastic gland category.
Conclusions:
The incidence of CHT has increased significantly in the Republic of Ireland over the past 37 years despite a consistent screening cutoff. The increased rate was not explained by an increased survival rate of preterm infants or a changing population heterogeneity.
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