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      Adult Consequences of Congenital Adrenal Hyperplasia

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          Abstract

          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.

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                Author and article information

                Journal
                HRE
                Horm Res Paediatr
                10.1159/issn.1663-2818
                Hormone Research in Paediatrics
                S. Karger AG
                978-3-8055-8475-3
                978-3-8055-8476-0
                1663-2818
                1663-2826
                2007
                December 2007
                10 December 2007
                : 68
                : Suppl 5
                : 158-164
                Affiliations
                Division of Medical Sciences, University of Birmingham, Birmingham, UK
                Article
                110615 Horm Res 2007;68:158–164
                10.1159/000110615
                18174737
                © 2007 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

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

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