Prenatal Diagnosis of Congenital Adrenal Hypoplasia

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Abstract

Congenital adrenal hypoplasia is a rare disorder and one of the possible causes of low maternal plasma and/or urine estriol during pregnancy. We studied 2 cases pre- and postnatally. Dehydroepiandrosteronesulfate (DHAS) and estriol (E<sub>3</sub>) studied longitudinally in maternal plasma were at or below the lower limit of the normal range. Prior to substitution treatment, an ACTH test revealed low plasma levels of aldosterone, cortisol and all their precursors, with no rise after ACTH. ACTH plasma levels were elevated. It is possible to detect congenital adrenal hypoplasia prenatally in families at risk by repeated measurements of DHAS and estriol in maternal plasma during pregnancy.

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Author and article information

Journal

Journal ID (publisher-id): HRE

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 1996

Publication date (Print): 1996

Publication date (Electronic): 09 December 2008

Volume: 46

Issue: 1

Pages: 41-45

Affiliations

Division of Paediatric Endocrinology, Departments of Paediatrics, Universities of ^aKiel and ^bErlangen, Germany

Article

Publisher ID: 184976 Other ID: Horm Res 1996;46:41–45

DOI: 10.1159/000184976

PubMed ID: 8854139

SO-VID: 92ae4038-aced-4544-aece-732d10652209

License:

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.

History

Date received : 01 March 1995

Date accepted : 19 September 1995

Page count

Pages: 5

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