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      Adult Consequences of Congenital Adrenal Hyperplasia

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          Background: 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. Conclusions: 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.

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          Most cited references 33

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          Congenital adrenal hyperplasia.

          Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.
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            Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

             P C White (2000)
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              Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.


                Author and article information

                Horm Res Paediatr
                Hormone Research in Paediatrics
                S. Karger AG
                December 2007
                10 December 2007
                : 68
                : Suppl 5
                : 158-164
                Division of Medical Sciences, University of Birmingham, Birmingham, UK
                110615 Horm Res 2007;68:158–164
                © 2007 S. Karger AG, Basel

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                Page count
                References: 42, Pages: 7
                Adult Workshop 2


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