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Kinder- und Jugendmedizin 2011; 11(01): 5-10
DOI: 10.1055/s-0038-1630463
Aus der Praxis für die Praxis
Schattauer GmbH

Die Genetik häufiger Wachstumsstörungen

The genetics of common growth disorders
L. B. Johnston-Rohrbasser
1   Ärztezentrum für Kinder- und Jugendmedizin, München
,
U. Kuhnle-Krahl
1   Ärztezentrum für Kinder- und Jugendmedizin, München
› Author Affiliations
Further Information

Publication History

received: 28 July 2010

Accepted after major revision 03 August 2010

Publication Date:
25 January 2018 (online)

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Zusammenfassung

Die Ätiologie der unterschiedlichen Wachstumsstörungen wurde während der letzen 20 Jahre in vielen Fällen geklärt, wobei gezeigt werden konnte, dass ganz unterschiedliche genetische Defekte, meist Einzelgendefekte, für den Kleinwuchs verantwortlich sind. In dieser Übersichtsarbeit haben wir uns auf zwei Gruppen von Wachstumsstörungen, die allerdings sehr komplex sind, beschränkt und zwar auf den Kleinwuchs nach intrauteriner Mangelgeburt bzw. den idiopathischen Kleinwuchs. Beide Phänotypen werden häufig in der kinderendokrinologischen Sprechstunde vorgestellt. Erst kürzlich konnte gezeigt werden, dass bei einem kleinen Prozentsatz von Patienten mit einem idiopathischen Kleinwuchs eine SHOX-Mutation ursächlich ist. Anhand eines Fallbeispiels aus unserer endokrinologischen Sprechstunde möchten wir diesen Zusammenhang erläutern.

Summary

Our understanding of growth disorders has steadily improved over the last twenty years. Today many genetic defects are understood to contribute to poor growth, the majority of these being single gene disorders. In this overview we focus on SGA-related short stature and idiopathic short stature (ISS). These disorders are seen commonly in the paediatric endocrine clinic and are likely to have a more complex multifactorial aetiology. More recently SHOX mutations have been able to account for a small proportion of the ISS cases, and an illustrative example from our clinical experience is described.

Schlüsselwörter

Kleinwuchs - intrauterine Wachstumsretardierung (SGA) - idiopathischer Kleinwuchs (ISS)

Keywords

Short stature - small for gestational age (SGA) - idiopathic short stature (ISS)
 

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