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Congenital hypothyroidism: the Riyadh Military Hospital experience
M A Majeed-Saidan1, B Joyce, M Khan
1Neonatal Intensive Care Unit, Riyadh Military Hospital, Saudi Arabia.
Clinical Endocrinology
|February 1, 1993
Summary
The incidence of congenital hypothyroidism (CH) in infants is 1/2096, with higher rates of dyshormonogenesis and associated conditions. Cord blood screening for CH missed some cases.
Area of Science:
- Endocrinology
- Pediatrics
- Genetics
Background:
- Congenital hypothyroidism (CH) is a significant cause of preventable intellectual disability in newborns.
- Early detection and treatment of CH are crucial for optimal neurodevelopmental outcomes.
Purpose of the Study:
- To determine the incidence of primary CH in infants within the Riyadh Al-Kharj Hospital Programme.
- To evaluate the effectiveness of early detection and treatment strategies for CH.
Main Methods:
- Screening of 44,778 infants using cord blood and blood spot TSH levels.
- Confirmatory tests including 123I thyroid scan, knee X-ray, and maternal thyroid antibodies.
- Utilized immunoassay methods with TSH cut-off levels of 30 mIU/l for cord blood and 25 mIU/l for spot blood.
Main Results:
- Identified a primary CH incidence of 1/2096.
- Dyshormonogenesis was found in 8 out of 17 infants with confirmed CH.
- Associated malformations and diseases occurred in 42.85% of cases, including a rare ring chromosome 9 anomaly.
Conclusions:
- The incidence of CH, dyshormonogenesis, and associated conditions in this cohort exceeds previously reported literature.
- Cord blood screening for CH is associated with a notable rate of missed diagnoses.