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      Analysis of the Testis-Determining Gene SRY in Patients with XY Gonadal Dysgenesis

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          Abstract

          The sex-determining region of the Y chromosome (SRY) encodes a gene that has many of the properties expected to the testis-determining factor. XY gonadal dysgenesis is characterized by streak gonads in phenotypic females who lack the somatic abnormalities and short stature associated with Turner’s syndrome. We have examined four patients with XY gonadal dysgenesis for the presence and absence of SRY and the DNA sequence of the gene. The results showing that one was negative for SRY and another had a mutation within the gene have confirmed the etiological role of SRY in XY gonadal dysgenesis. However, the other two patients with short stature had apparently normal SRY. DNA sequencing of the SRY gene showed 100% nucleotide sequence identity with the reported cloned sequence. Sex reversal in two of the present cases may be due to mutation at a locus other than SRY in the sex-determining pathway, a gene potentially involved in the determination of human sexual constitution.

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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
          978-3-8055-6342-0
          978-3-318-01575-1
          1663-2818
          1663-2826
          1996
          1996
          09 December 2008
          : 46
          : Suppl 1
          : 6-10
          Affiliations
          aDepartment of Obstetrics and Gynecology, Faculty of Medicine, and bDepartment of Human Genetics, School of International Health, University of Tokyo, Japan
          Article
          185168 Horm Res 1996;46:6–10
          10.1159/000185168
          8864741
          © 1997 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: 5
          Categories
          Sex Differentiation and Ovarian Function

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