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Published on: September 15, 2017
Incidence and clinical features of congenital adrenal hyperplasia in Great Britain
Javaria Mona Khalid1, Juliet M Oerton, Carol Dezateux
1MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health, London, UK.
Insights
Congenital adrenal hyperplasia (CAH) affects approximately 1 in 18,000 births in Great Britain. Newborn screening could detect about 70% of cases presenting with salt-wasting crises earlier.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Public Health
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- Early diagnosis and management are crucial for preventing severe health complications.
Purpose of the Study:
- To determine the incidence and clinical presentation of CAH in children under 16 in Great Britain.
- To evaluate the potential benefits of implementing newborn screening for CAH.
Main Methods:
- Prospective active surveillance of newly diagnosed CAH cases in children under 16 years old.
- Data collected via the British Paediatric Surveillance Unit and reporting laboratories from August 2007 to August 2009.
- Clinical questionnaires completed by reporting clinicians.
Main Results:
- 144 children diagnosed with CAH; 92% had 21-hydroxylase deficiency.
- Incidence of new diagnoses was 0.60 per 100,000 children.
- Birth prevalence estimated at 5.48 per 100,000, with 59% diagnosed in the first year of life.
- 27 newborns presented with salt-wasting crises, 67% of whom were boys presenting after 14 days of age.
Conclusions:
- CAH affects approximately 1 in 18,000 newborns in Great Britain.
- Boys present with more severe symptoms, including salt-wasting crises, more frequently than girls.
- Newborn screening could lead to earlier detection of approximately 70% of critical CAH cases.
Objectives:
To estimate the incidence of clinically diagnosed congenital adrenal hyperplasia (CAH), clinical features and age at first presentation. To assess the potential benefit of newborn screening for CAH.
Design:
Active surveillance through the British Paediatric Surveillance Unit of all children aged under 16 years with newly diagnosed CAH, undertaken prospectively between August 2007 and August 2009. Twelve laboratories testing for CAH reported new diagnoses between August 2007 and January 2009. Reporting clinicians completed clinical questionnaires.
Setting:
England, Wales and Scotland.
Results:
144 children with CAH were reported, of whom 132 (92%) had 21-hydroxylase deficiency. Thirty-six (25%) children were Asian and 62 (43%; 95% CI 35% to 51%) were boys. Incidence of new diagnoses in children ≤ 16 years was 0.60 (95% CI 0.50 to 0.71) per 100,000. Eighty-six (59%; 36 boys) children were diagnosed in the first year of life (estimated birth prevalence 5.48 (95% CI 4.42 to 6.81) per 100,000), most (77; 89%) of whom presented in the first month of life. Virilised genitalia were found in three-quarters of girls. Twenty-seven newborns first presented with salt-wasting crises, of whom 18 (67%; 16 boys) presented on or after 14 days of age.
Conclusions:
Approximately one child in every 18 000 born in Great Britain has CAH. Similar numbers of boys and girls present clinically in the first year of life, but boys present with more severe manifestations, such as salt-wasting crises. Around 70% of newborns who first present with salt-wasting crisis would be detected earlier through newborn screening.
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