Titre
Molekulare Früherkennung in der Endokrinologie - auf dem Weg zur differenzierten Behandlung komplexer Hormon- und Stoffwechselstörungen [Molecular tests for (early) recognition of endocrine disorders - towards a sophisticated management of complex endocrine and metabolic diseases]
Type
article
Institution
Externe
Périodique
Therapeutische Umschau. Revue therapeutique
Auteur(s)
Kopp, P.
Auteure/Auteur
Liens vers les personnes
ISSN
0040-5930
Statut éditorial
Publié
Date de publication
2010-07
Volume
67
Numéro
7
Première page
367
Dernière page/numéro d’article
373
Peer-reviewed
Oui
Langue
allemand
Notes
Publication types: English Abstract ; Journal Article ; Review
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
PID Serval
serval:BIB_6648CF11C7C7
PMID
Date de création
2020-12-28T15:01:07.671Z
Date de création dans IRIS
2025-05-21T01:28:43Z