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      17-Hydroxylase/17,20 Lyase Deficiency Diagnosed during Childhood

      case-report

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          Abstract

          We present a case of familial 17α-hydroxylase/17,20 lyase (CYP17) deficiency in which the index case, a 14-year-old XX girl, led to the diagnosis of the condition in a 9-year-old XY sister. No mutations in the CYP 17 gene were found in any of the girls.

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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
          1663-2818
          1663-2826
          2002
          2002
          15 May 2002
          : 57
          : 3-4
          : 133-136
          Affiliations
          aLondon Centre for Paediatric Endocrinology and Metabolism, and bDepartment of Chemical Pathology, University College London Hospitals, London, UK
          Article
          57964 Horm Res 2002;57:133–136
          10.1159/000057964
          12006710
          c3f9e520-866b-42fb-b060-5a800bbfbb96
          © 2002 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.

          History
          Page count
          Figures: 2, References: 20, Pages: 4
          Categories
          Case Report

          Endocrinology & Diabetes,Neurology,Nutrition & Dietetics,Sexual medicine,Internal medicine,Pharmacology & Pharmaceutical medicine
          XY sex reversal,17α-Hydroxylase/17,20 lyase deficiency,Urine steroid metabolites,CYP17 gene,Congenital adrenal hyperplasia

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