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Related Experiment Videos

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

Saudi Medical Journal
|June 19, 2002
PubMed
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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.

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  • 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.