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Congenital anomalies associated with congenital hypothyroidism
1Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
Insights
Infants with congenital hypothyroidism (CH) show a higher incidence of extrathyroid anomalies (ETAs), particularly those with transient CH. This suggests potential teratogenic effects impacting multiple organs during development.
Area of Science:
- Endocrinology
- Neonatal screening
- Birth defect monitoring
Background:
- The French national neonatal screening program for congenital hypothyroidism (CH) began in 1978.
- Congenital hypothyroidism (CH) is a condition requiring early detection and management.
- Understanding associated anomalies is crucial for comprehensive care.
Purpose of the Study:
- To determine the incidence of congenital extrathyroid anomalies (ETAs) in infants diagnosed with CH.
- To compare ETA rates in CH infants with general population data.
- To investigate potential links between CH and other congenital anomalies.
Main Methods:
- Retrospective analysis of neonatal screening data for CH in France.
- Comparison with data from the Northeastern France Birth Defect Monitoring System (1979-1996).
- Categorization of CH cases into persistent and transient forms.
Main Results:
- Among 129 CH infants, 20 (15.5%) had associated congenital anomalies.
- ETAs were more frequent in transient CH (22.6%) than persistent CH (10.5%).
- Congenital cardiac anomalies were observed in 6.9% of CH infants.
Conclusions:
- Infants with CH exhibit a significant rate of congenital extrathyroid anomalies.
- Transient CH cases show a higher prevalence of ETAs.
- The findings suggest a possible teratogenic influence affecting multiple organ systems during development.
Abstract:
The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.