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Table of Contents
Vol. 67, Suppl. 1, 2007
Issue release date: February 2007
Section title: KIGS Highlights
Horm Res 2007;67:45–49
(DOI:10.1159/000097552)

Noonan Syndrome: Genetics and Responsiveness to Growth Hormone Therapy

Binder G. · Wittekindt N. · Ranke M.B.
Pediatric Endocrinology Section, University Children’s Hospital, Tübingen, Germany

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Article / Publication Details

First-Page Preview
Abstract of KIGS Highlights

Published online: February 15, 2007
Issue release date: February 2007

Number of Print Pages: 5
Number of Figures: 4
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Background: The autosomal-dominant Noonan syndrome (MIM 163950) is characterized by short stature, heart defects, characteristic facial dysmorphic features and other major and minor anomalies. Its incidence has been estimated to be 1 in 1,000 to 2,500 live births. Familial cases are frequent. Methods and Results: Recently, molecular data have suggested that deregulation of signaling through the Ras-mitogen-activated protein kinase (Ras-MAPK) pathway was the main molecular basis of Noonan syndrome. The frequently detected upstream defects of this pathway are gain-of-function mutations of PTPN11, which are associated with a mild form of growth hormone (GH) resistance and insulin-like growth factor I (IGF-I) deficiency, presumably due to interference with the Janus kinase 2 and signal transducer and activator of transcription 5b (JAK2-STAT) signaling of the GH receptor. Present data suggest reduced GH responsiveness in these cases. Conclusions: Downstream defects of the Ras-MAPK pathway (like K-ras mutations) do not affect the JAK2-STAT pathway, and therefore response to GH therapy is likely to be better in these cases.

© 2007 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of KIGS Highlights

Published online: February 15, 2007
Issue release date: February 2007

Number of Print Pages: 5
Number of Figures: 4
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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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.
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