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Screening for congenital hypothyroidism
Gerard Henry1, Samia H Sobki, Johara M Othman
1Pathology Department, Security Forces Hospital, PO Box 3643, Riyadh 11481, Kingdom of Saudi Arabia. wayne@sfh.med.sa
Insights
Congenital hypothyroidism affects 1 in 2759 newborns in Saudi Arabia, with screening programs effectively identifying cases early. Most affected infants showed no distinct neonatal signs, highlighting the importance of universal screening for congenital hypothyroidism.
Area of Science:
- Endocrinology
- Neonatal Screening
- Public Health
Background:
- Congenital hypothyroidism (CH) is a significant cause of preventable intellectual disability.
- Early detection and treatment are crucial for optimal neurodevelopmental outcomes.
- Screening programs are vital for identifying CH in newborns.
Purpose of the Study:
- To evaluate the effectiveness of the congenital hypothyroidism screening program in the Riyadh Al-Kharj Hospital Programme.
- To determine the incidence and characteristics of CH in the screened population.
- To analyze the clinical and biochemical profiles of infants with CH.
Main Methods:
- Retrospective analysis of laboratory data and case notes from 1985 to 2000.
- Screening involved measurement of thyroid stimulating hormone (TSH) in cord blood.
- Data collected on incidence, sex ratio, clinical signs, and causes of CH.
Main Results:
- Screened 121,404 infants over 15 years; overall CH incidence was 1:2759 live births (female:male ratio 1.8:1).
- Athyreosis (45%), thyroid ectopia (24%), and dyshormonogenesis (17%) were the primary causes.
- Affected infants typically lacked neonatal symptoms, and treatment commenced around 10.3 days of age.
Conclusions:
- The TSH-based screening program successfully identified 97% of CH cases.
- The incidence of CH in the region is comparable to global rates, with a female predominance.
- Early initiation of thyroxine therapy is standard practice for infants diagnosed through screening.
Objective:
To review the screening program for congenital hypothyroidism in the Riyadh Al-Kharj Hospital Programme, Riyadh, Kingdom of Saudi Arabia, and to investigate the clinical and biochemical characteristics of affected infants.
Methods:
The study was carried out from 1985 to 2000 in the Clinical Chemistry Division, Department of Pathology, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia. Laboratory data and case notes of infants diagnosed with congenital hypothyroidism were used to supply the relevant data and information.
Results:
One hundred and twenty-one thousand, four hundred and four infants were screened over a period of nearly 15 years. The overall incidence of congenital hypothyroidism was 1:2759 live births with a female: male ratio of 1.8:1. The incidence in a rural satellite hospital was 1:1538. No seasonal variation was observed. Apart from jaundice, signs and symptoms of congenital hypothyroidism were rarely present in the neonatal period. The neonatal and maternal parameters of affected infants did not differ significantly from those of other infants. The predominant cause of congenital hypothyroidism was athyreosis (45%), followed by thyroid ectopia (24%) and dyshormonogenesis (17%). The mean age at the start of treatment of infants diagnosed in the screening program was 10.3 days.
Conclusion:
The screening program based on initial measurement of thyroid stimulating hormone in cord blood captures 97% of infants born in the Riyadh Al-Kharj Hospital Programme. The incidence of congenital hypothyroidism was 1:2759 live births with a female:male ratio of nearly 2:1. Congenital hypothyroidism infants had similar neonatal parameters as other infants. No seasonality in the incidence of congenital hypothyroidism was observed. In general, affected infants were started on thyroxine very soon after birth.