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Horm Res. 2007;68 Suppl 5:158-64. doi: 10.1159/000110615. Epub 2007 Dec 10.

Adult consequences of congenital adrenal hyperplasia.

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  • 1Division of Medical Sciences, University of Birmingham, Birmingham, UK.



Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency accounts for 95% of all CAH cases and is one the most common inborn metabolic disorders. While consensus and guidelines on therapeutic management in infancy and childhood are available, data regarding the treatment of adults with CAH are scarce. This review highlights the issues that need to be addressed when caring for the adult CAH patient. Issues include glucocorticoid and mineralocorticoid replacement, adrenal crisis, female and male fertility, genetic counselling, prenatal dexamethasone treatment, pregnancy and the odds of long-term morbidity and mortality in these patients.


Large-scale audit studies are urgently required to help optimise management and long-term outcome of these patients, as are optimisation of glucocorticoid replacement and biochemical monitoring tools. It is very important that the adult CAH patient receive regular monitoring by a multidisciplinary team at the secondary- or tertiary-care level.

Copyright (c) 2007 S. Karger AG, Basel.

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