Häufige und seltene Ursachen von Kleinwuchs: Bedeutung der genetischen Diagnostik

Martin Munteanu; Elisabeth Resch; Corinna Grasemann

doi:10.1055/a-2625-3872

Kinder- und Jugendmedizin, Inhaltsverzeichnis

Kinder- und Jugendmedizin 2025; 25(05): 281-290
DOI: 10.1055/a-2625-3872

Schwerpunkt

Häufige und seltene Ursachen von Kleinwuchs: Bedeutung der genetischen Diagnostik

Genetic causes of short stature – common and rare diagnoses: the importance of genetic diagnostics and practical guidance for clinical application

Authors

Martin Munteanu

¹Kinderendokrinologie und Diabetologie, Klinik für Kinderheilkunde II, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Essen, Essen

²Institut für Humangenetik, Universitätsmedizin Göttingen, Göttingen
Elisabeth Resch

³Centrum für Seltene Erkrankungen Ruhr (CeSER), Department für Kinderheilkunde und Jugendmedizin der Ruhr-Universität Bochum, Katholisches Klinikum Bochum, Bochum
Corinna Grasemann

⁴Zentrum für Kinder- und Jugendmedizin, Universitätsmedizin Mainz, Mainz

Abstract

Zusammenfassung

Kleinwuchs kann eine Vielzahl von Ursachen haben, die von allgemeinen Wachstumsstörungen bis hin zu seltenen genetischen Syndromen reichen. In diesem Artikel werden die wichtigsten genetischen Ursachen von Kleinwuchs untersucht, einschließlich Chromosomenveränderungen, Einzelgenveränderungen und Methylierungsstörungen. Ein besonderer Fokus liegt auf der Rolle der genetischen Diagnostik, die eine präzise Ursachenklärung ermöglicht und so zu individuelleren Therapieansätzen beiträgt. Der Artikel erläutert die gängigen diagnostischen Verfahren, die zur Abklärung von Kleinwuchs eingesetzt werden, und gibt praktische Hinweise zur Veranlassung der entsprechenden Tests in der klinischen Praxis. Häufig bleibt Kleinwuchs aufgrund unklarer Diagnosen als „familiärer Kleinwuchs“ unerkannt oder wird nicht ausreichend behandelt. Durch den gezielten Einsatz genetischer Tests können spezifische Behandlungen wie Wachstumshormontherapien oder andere medikamentöse Interventionen sinnvoll eingeleitet werden. Ziel des Artikels ist es, die Bedeutung der genetischen Diagnostik in der Kleinwuchsabklärung zu verdeutlichen und praktische Empfehlungen für die Umsetzung der Diagnostik in der täglichen Patientenversorgung zu bieten.

Abstract

Short stature can have a variety of causes, ranging from general growth disorders to rare genetic syndromes. This article explores the most important genetic causes of short stature, including chromosomal variations, single-gene variations, and methylation changes. A particular focus is placed on the role of genetic diagnostics, which allows for precise identification of the underlying cause and thus contributes to more personalized therapeutic approaches. The article explains the common diagnostic procedures used to investigate short stature and provides practical guidance on when and how to request the relevant tests in clinical practice. Often, short stature is misdiagnosed as “familial short stature” or goes untreated due to unclear diagnoses. Through targeted genetic testing, specific treatments such as growth hormone therapy or other medical interventions can be appropriately initiated. The aim of this article is to emphasize the importance of genetic diagnostics in the evaluation of short stature and offer practical recommendations for integrating diagnostic testing into routine patient care.

Schlüsselwörter

Kleinwuchs - genetische Diagnostik - Chromosomenaberrationen - Einzelgenveränderungen - Therapieempfehlungen

Keywords

short stature - genetic diagnostics - chromosomal aberrations - single-gene mutations - treatment recommendations

Volltext

Referenzen

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