Molekulare früherkennung in der endokrinologie - Auf dem weg zur differenzierten behandlung komplexer hormon- und stoffwechselstörungen

Translated title of the contribution: Molecular tests for (early) recognition of endocrine disorders - Towards a sophisticated management of complex endocrine and metabolic diseases

Peter Kopp*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

Genetic testing has a growing impact on clinical medicine in endocrinology. In many disorders, genetic tests permit establishing a diagnosis at the molecular level. Genetic testing has clinical relevance for early carrier detection that may result in early and targeted interventions, and it is important for genetic counseling. Moreover, a detailed understanding of the molecular pathogenesis of endocrine neoplasms is key for the development of novel, more specific therapies. The practitioner should be familiar with key principles and indications for genetic testing. However, it is of importance to recognize potential limitations of genetic analyses, and to inform patients and their relatives accordingly. This review provides a short overview about genetic analyses in the field of endocrinology that are relevant for the practicing physician.

Translated title of the contributionMolecular tests for (early) recognition of endocrine disorders - Towards a sophisticated management of complex endocrine and metabolic diseases
Original languageGerman
Pages (from-to)367-373
Number of pages7
JournalTherapeutische Umschau
Volume67
Issue number7
DOIs
StatePublished - Jul 2 2010

ASJC Scopus subject areas

  • Medicine(all)

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