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Congenital hypothyroidism
Vandana Jain1, Ramesh Agarwal, Ashok K Deorari
1Division of Pediatric Endocrinology, All India Institute of Medical Sciences Ansari Nagar, New Delhi, India.
Insights
Congenital Hypothyroidism (CH) screening detects infants needing thyroid hormone replacement. Early L-thyroxine treatment before two weeks of age ensures the best developmental outcomes for affected newborns.
Area of Science:
- Pediatrics
- Endocrinology
- Neonatology
Background:
- Congenital Hypothyroidism (CH) is a leading preventable cause of intellectual disability.
- Affects 1 in 4000 live births globally.
- Early detection and treatment are crucial for optimal neurodevelopment.
Purpose of the Study:
- To outline the screening, diagnosis, and management of Congenital Hypothyroidism.
- To emphasize the importance of timely L-thyroxine initiation for favorable outcomes.
Main Methods:
- Universal screening for CH at 3-4 days of age.
- Confirmation of screening values (low T4, high TSH) with venous samples.
- Initiation of L-thyroxine therapy (10-15 microg/kg/day) upon diagnosis.
Main Results:
- Early treatment (before 2 weeks) with appropriate L-thyroxine dosage (>9.5 microg/kg/day) leads to the best outcomes.
- Regular monitoring ensures T4 levels remain in the upper normal range.
Conclusions:
- Timely diagnosis and treatment of CH are essential to prevent mental retardation.
- Adherence to screening protocols and therapeutic guidelines maximizes developmental potential in affected infants.
Abstract:
Congenital Hypothyroidism (CH) is one of the most common preventable causes of mental retardation with a worldwide incidence of 1:4000 live births. Ideally universal screening at 3-4 days of age should be done for detecting CH. Abnormal values on screening (T4 < 6.5 ug/dL, TSH > 20 micro/L) should be confirmed by a venous sample (using age appropriate cutoffs) before initiating treatment. Term as well as preterm infants with low T4 and elevated TSH should be started on L-thyroxine at a dose of 10-15 microg/ kg/ day as soon as the diagnosis is made. Regular monitoring should be done to ensure that T4 is in the upper half of normal range. The outcome of CH depends on the time of initiation of therapy and the dose of L-thyroxine used with the best outcome in infants started on treatment before 2 weeks of age with a dose > 9.5 microg/ kg/ day.
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