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Congenital hypothyroidism missed on screening
Archives of Disease in Childhood
|February 1, 1986
Insights
Congenital hypothyroidism can be missed in newborns with normal low thyrotropin levels. Early childhood morbidity highlights the need for continued clinical awareness of this condition.
Area of Science:
- Pediatrics
- Endocrinology
- Neonatal screening
Background:
- Congenital hypothyroidism (CH) is a common endocrine disorder in newborns.
- Neonatal screening programs aim to detect CH early to prevent developmental issues.
- Thyrotropin (TSH) levels are typically used for CH screening.
Purpose of the Study:
- To report cases of CH missed during neonatal screening.
- To emphasize the importance of recognizing CH in later childhood.
- To alert clinicians to potential screening limitations.
Main Methods:
- Case series presentation.
- Review of clinical histories of three patients.
- Analysis of neonatal screening data and subsequent clinical presentations.
Main Results:
- Three patients with CH were identified in childhood after initial normal screening.
- Normal low thyrotropin concentrations in the neonatal period masked the diagnosis.
- Delayed diagnosis led to significant morbidity in early childhood.
Conclusions:
- Neonatal screening for CH may not detect all cases.
- Clinicians must maintain a high index of suspicion for CH in children with relevant symptoms.
- Hypothyroidism remains a significant cause of early childhood morbidity.
Abstract:
Three patients with congenital hypothyroidism missed on routine screening due to normal low thyrotrophin concentrations in the neonatal period presented in later childhood. Clinicians should remain aware of hypothyroidism as a cause of morbidity in early childhood despite a national screening programme.