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Congenital hypothyroidism in Denmark
Insights
Primary hypothyroidism affects 1 in 6064 infants in Denmark. Diagnosis often occurs within the first year, with thyroid abnormalities like aplasia or hypoplasia being common. This incidence is lower than neonatal screening suggests.
Area of Science:
- Pediatrics
- Endocrinology
- Epidemiology
Background:
- Primary hypothyroidism is a significant congenital condition affecting infants.
- Early detection and diagnosis are crucial for managing infant health.
- Understanding incidence rates and etiological factors is vital for public health strategies.
Purpose of the Study:
- To determine the incidence of primary hypothyroidism in a Danish birth cohort.
- To analyze the age at diagnosis and etiological factors associated with the condition.
- To compare the study's findings with existing neonatal screening program data.
Main Methods:
- Retrospective cohort study of live births in Denmark between 1970-1975.
- Inclusion of infants diagnosed with primary hypothyroidism.
- Analysis of diagnostic age, thyroid scintigram findings, and incidence rates.
Main Results:
- An incidence of 1 in 6064 live births was observed for primary hypothyroidism.
- Diagnosis occurred between 1 week and 5 years 4 months, with 70% diagnosed within the first year.
- Thyroid scintigrams revealed aplastic/hypoplastic glands (72%), ectopic glands (12%), or goiters (16%).
Conclusions:
- The study establishes a baseline incidence for primary hypothyroidism in the specified Danish cohort.
- Thyroid gland morphology influences the age of diagnosis.
- The observed incidence is lower than anticipated by the Danish neonatal screening program, suggesting potential underdiagnosis or differing methodologies.
Abstract:
Among 436 959 live infants born between 1970 and 1975 in Denmark were 72 (49 girls and 23 boys) who developed primary hypothyroidism, giving an incidence of 1 in 6064 live births. In the oldest group (6 to 8 years of age) the incidence was 1 in 5100. The age at diagnosis ranged from 1 week to 5 years 4 months; 10% were diagnosed within the first month, 40% within the first 3 months, and 70% within the first year of life. Thyroid scintigrams were available for 43 patients, 72% had aplastic or hypoplastic thyroid glands, 12% had ectopic thyroid glands, 16% had goitres. Patients with aplastic or hypoplastic thyroids tended to be diagnosed earlier than those with ectopic thyroid glands. The calculated incidence in the presence study is lower than that suggested by the Danish neonatal screening programme.