Related Experiment Video
Updated: Aug 1, 2026
Biochemical Measurement of Neonatal Hypoxia
Published on: August 24, 2011
Newborn screening for congenital hypothyroidism, Victoria, Australia, 1977-1997. Part 1: The screening programme,
J F Connelly1, J C Coakley, H Gold
1Department of Clinical Biochemistry, Royal Children's Hospital, Parkville, Victoria, Australia. connelly@labyrinth.net.au
Insights
Congenital hypothyroidism (CH) affects 1 in 3,541 infants in Victoria, Australia. Thyroid ectopia, aplasia, and dyshormonogenesis are the primary causes, with specific risk factors identified for each.
Area of Science:
- Endocrinology
- Pediatrics
- Genetics
Background:
- Congenital hypothyroidism (CH) is a common endocrine disorder in newborns.
- Early detection and treatment are crucial for neurodevelopmental outcomes.
- Understanding the aetiologies and demographics of CH is essential for public health initiatives.
Purpose of the Study:
- To report clinical, demographic, and laboratory data of infants with CH in Victoria, Australia.
- To establish a baseline for a long-term prospective study on CH outcomes.
- To identify the prevalence and common aetiologies of CH in the screened population.
Main Methods:
- Neonatal screening using a primary TT4 test.
- Prospective data collection via a clinical assessment protocol.
- 99mTc pertechnetate scanning for aetiological determination.
Main Results:
- 199 cases of permanent primary CH identified in 704,723 screened infants (1:3,541 prevalence).
- Most common aetiologies: thyroid ectopia (46%), aplasia (33%), and dyshormonogenesis (11%).
- Clinical features varied by aetiology; female preponderance noted in thyroid dysplasia; increased dyshormonogenesis in infants of Middle-Eastern origin.
Conclusions:
- The study provides a comprehensive dataset on CH in Victoria, Australia.
- Identified prevalence and aetiologies align with global trends but highlight specific demographic associations.
- This data serves as a critical baseline for future research on long-term CH outcomes.
Abstract:
Clinical, demographic and laboratory data from infants with congenital hypothyroidism (CH) born in the Australian state of Victoria from the commencement of neonatal screening in mid-1977 until December 1988 are reported. These provide a baseline for a 12-year prospective longitudinal study on physical and neuro-psychological outcome until mid-1997, the subject of a second paper. Infants with CH were detected using a primary TT4 screening test. Demographic data were collected prospectively using a clinical assessment protocol. Nearly all affected infants underwent 99mTc pertechnetate scanning at the initial assessment to determine the underlying aetiology of their hypothyroidism. 704,723 infants were screened and 199 with permanent primary hypothyroidism (one in 3,541) were identified. The most common aetiologies were thyroid ectopia (46%), thyroid aplasia (33%), and 'dyshormonogenesis' (11%). The clinical abnormalities classically described in CH were more evident in infants with aplasia, and the striking female preponderance in infants with thyroid dysplasia (syn. dysgenesis) was confirmed. Other features included increased frequencies of 'dyshormonogenesis' in infants of parents of Middle-Eastern origin and of labour induction in infants with dysplasia. A closed posterior fontanelle was not found in any infant with thyroid aplasia.
More Related Videos
05:58Application of an Amplitude-integrated EEG Monitor (Cerebral Function Monitor) to Neonates
Published on: September 6, 2017
05:15Amplitude-Integrated EEG in Infants at Risk of Hypoxic-Ischemic Encephalopathy: A Feasibility Study in Road and Air Transport in Western Australia
Published on: June 21, 2024