Mode of Inheritance in Familial Cases of Primary Gonadotropic Deficiency

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Abstract

The mode of inheritance of primary gonadotropic deficiency was studied in 38 children and adolescents. 92% of this population was male with high frequencies of undescended testes (80%) and micropenis (31 %). Anosmia was present in 61 % of the patients aged more than 5 years and was a frequent genetic marker in the families. Inheritance was matrilineal in 18, X-linked dominant or autosomal dominant in 6. In 13 cases, the transmission was patrilineal and evoked autosomal dominant inheritance. An autosomal recessive transmission was likely in 7 patients. The data agree with the suggestion of multiple modes of inheritance of congenital gonadotropic deficiency, and clearly show the wide range of expressivity of the disorder.

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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: 1988

Publication date (Print): 1988

Publication date (Electronic): 28 November 2008

Volume: 29

Issue: 5-6

Pages: 202-206

Affiliations

Hôpital Saint-Vincent-de-Paul, Paris, France

Article

Publisher ID: 181003 Other ID: Horm Res 1988;29:202–206

DOI: 10.1159/000181003

PubMed ID: 3146543

SO-VID: c800dcde-2fa6-40b4-bbb3-dc07ab629c55

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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 : 02 July 1987

Date accepted : 15 January 1988

Page count

Pages: 5

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