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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.
Insights
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.
Objective:
We aimed to find out the incidence of primary congenital hypothyroidism (CH) among infants born within the Riyadh Al-Kharj Hospital Programme in addition to early detection and treatment of these infants.
Design:
All babies born within the Riyadh Al-Kharj Hospital Programme were screened by cord blood TSH. Blood spot TSH were done in the majority of infants between 2 and 5 days after birth. All suspected cases were recalled for confirmatory tests. 123I thyroid scan and X-ray of the knee and maternal blood for thyroid antibodies were done for confirmed cases.
Measurements:
A cut off TSH level of 30 mIU/l for cord blood and 25 mIU/l for spot blood were used. All samples were assayed by immunoassay methods.
Results:
44,778 (99.4% of the total births) infants were screened. Twenty-five cases were detected, four of which were excluded. The incidence of primary congenital hypothyroidism was 1/2096. Five cases were missed on the initial screen. Eight out of 17 children who had 123I thyroid scan were found to have dyshormonogenesis. Associated malformation and diseases were diagnosed in 42.85%. Two had chromosomal anomalies; ring chromosome 9 has not been previously reported in association with congenital hypothyroidism.
Conclusion:
The incidence of congenital hypothyroidism, dyshormonogenesis and the associated malformations and diseases are higher than those reported in the literature. Cord blood as a screening method is associated with a significant number of missed cases.