Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period
Aim: To evaluate the incidence, sex distribution, ethnicity, age at diagnosis, clinical presentation and morbidity of all childhood‐onset congenital adrenal hyperplasia (CAH) cases in Western Australia (WA) between 1990 and 2010, a state where newborn screening for CAH is not in place. Methods: Th...
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Published in | Journal of paediatrics and child health Vol. 48; no. 11; pp. 1029 - 1032 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Melbourne, Australia
Blackwell Publishing Asia
01.11.2012
Blackwell Publishing Ltd |
Subjects | |
Online Access | Get full text |
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Summary: | Aim: To evaluate the incidence, sex distribution, ethnicity, age at diagnosis, clinical presentation and morbidity of all childhood‐onset congenital adrenal hyperplasia (CAH) cases in Western Australia (WA) between 1990 and 2010, a state where newborn screening for CAH is not in place.
Methods: The total number of all known CAH cases was identified. Case files were reviewed retrospectively to determine clinical details. Classical CAH (C‐CAH) was defined as patients presenting before 6 months of age and non‐classical (NC‐CAH) as presenting after 6 months.
Results: Of the 41 CAH cases (26 female) born in WA, 5(12.2%) were of Aboriginal ethnicity. CAH was due to 21‐hydroxylase deficiency in 40 cases. Of those with 21‐hydroxylase deficiency, 37 were C‐CAH (25 female) and 3 NC‐CAH (all male). The incidence of C‐CAH in WA was estimated to be 0.67 per 10 000 live births (1:14 869). The incidence rate ratio of Aboriginal compared with non‐Aboriginal C‐CAH was 2.45 (95% confidence interval 0.96–6.29). The mean age of diagnosis of C‐CAH cases was lower in females (8.9 ± 2.5 days) compared to males (23.4 ± 9.8 days). Among these males, 72.7% presented initially with adrenal crisis.
Conclusion: The estimated incidence of classical CAH is similar to composite worldwide data. The increased female‐to‐male ratio is not in keeping with the expected sex distribution seen in a recessively inherited disease. The delayed diagnosis in males, with a significant proportion presenting with adrenal crisis, could be avoided with newborn screening. The higher rate of CAH in patients with Aboriginal ethnicity is a novel observation. |
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Bibliography: | ArticleID:JPC2584 ark:/67375/WNG-STW9HB5K-9 istex:9CA42CE2D5325ABBA1497A49B63F2DEAF465E26C Conflict of interest: None declared. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1034-4810 1440-1754 |
DOI: | 10.1111/j.1440-1754.2012.02584.x |