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      Genetic Disorders of Adrenal Hormone Synthesis

      Hormone Research in Paediatrics

      S. Karger AG

      Congenital adrenal hyperplasia, Gene conversion, HLA, Prenatal treatment, Steroid 21-hydroxylase

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          Steroid 21-hydroxylase is the enzyme involved in 90-95% of cases of congenital adrenal hyperplasia (CAH). The general feature of CAH, which results from an enzymatic block at any stage in the synthesis of cortisol, is increased serum adrenocorticotropin and thus stimulated adrenal synthesis of steroids proximal to the block. All enzyme defects causing CAH are autosomal recessive traits. The early steps in cortisol synthesis are common to adrenal and gonadal steroid pathways, thus CAH caused by dysfunction of the enzymes supporting these steps is also characterized by insufficient production of gonadal hormones, causing impaired genital development in the genetic male. The absence of or severe reduction of steroid 21-hydroxylase activity also causes prenatal hypersecretion of androgens by the adrenal cortex, which results in external genital ambiguity in genetic females. This paper discusses the classical and nonclassical forms of CAH, their aetiology, diagnosis and treatment, and also describes recent advances in prenatal diagnosis and treatment which avoids the need for corrective genital plastic surgery in infancy.

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          Author and article information

          Horm Res Paediatr
          Hormone Research in Paediatrics
          S. Karger AG
          03 December 2008
          : 37
          : Suppl 3
          : 22-33
          The New York Hospital-Cornell Medical Center, New York, USA
          182397 Horm Res 1992;37:22–33
          © 1992 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
          Pages: 12
          Workshop I


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