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Mortality in patients with congenital adrenal hyperplasia: a cohort study
A J Swerdlow1, C D Higgins, C G Brook
1Epidemiological Monitoring Unit, London School of Hygiene and Tropical Medicine, England.
Insights
Patients with congenital adrenal hyperplasia (CAH) have triple the expected mortality, with increased risk in young children and those of Indian subcontinent ethnicity, often due to adrenal crisis. Improved education for parents, especially from minority ethnic groups, is crucial.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Public Health
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- While steroid therapy has improved survival, the long-term mortality risks in CAH patients remain a concern.
Purpose of the Study:
- To compare mortality rates in patients with congenital adrenal hyperplasia (CAH) against the general population.
- To identify specific age groups and ethnic backgrounds with elevated mortality risks within the CAH cohort.
Main Methods:
- A cohort of 333 children diagnosed with CAH since 1964 in the UK was monitored until mid-1996.
- Standardized mortality ratios (SMRs) were calculated, adjusting for sex, age, and calendar period.
Main Results:
- Overall mortality in the CAH cohort was three times higher than expected.
- A significantly increased mortality risk was observed in children aged 1-4 years (SMR = 18.3) and in patients of Indian subcontinent ethnicity (SMR = 20.4), particularly girls.
- Adrenal crisis, often triggered by infection, was identified as the primary cause of death.
Conclusions:
- Despite advances in steroid therapy, congenital adrenal hyperplasia (CAH) can still be fatal.
- Elevated mortality in young children and specific ethnic groups highlights ongoing challenges in managing CAH.
- Enhanced communication and education for parents, particularly those from immigrant ethnic minorities, are essential for timely intervention and improved outcomes.
Objective:
To determine mortality in patients with congenital adrenal hyperplasia (CAH) compared with that in the general population.
Design:
We identified 333 children with CAH, treated at several pediatric endocrinology departments in the United Kingdom since 1964, and monitored their mortality to mid 1996. Standardized mortality ratios were calculated, comparing mortality in the cohort with that in the general population, adjusted for sex, age, and calendar period.
Results:
All-cause mortality in the cohort was 3 times that expected. Mortality was significantly increased at ages 1 to 4 years (standardized mortality ratio = 18.3) but not at older ages and was significantly increased in patients of Indian-subcontinent ethnicity (standardized mortality ratio = 20.4), particularly in girls. From case notes and death certificates, it appears that most deaths were caused by adrenal crisis, often after infection.
Conclusions:
Although survival of patients with CAH has greatly improved since steroid therapy has been used, this disease can still have fatal consequences. The high mortality rate in Indian ethnic girls may well reflect lack of parental acceptance and understanding of the disease, as well as of the action required when their child becomes acutely ill. Better communication with and education of parents of children with CAH, especially those from immigrant ethnic minorities, is important.