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Genetische Ursachen der prämaturen Ovarialinsuffizienz

  • J. Rehnitz
  • T. Strowitzki
  • P. H. Vogt
Leitthema
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Zusammenfassung

Genetische Ursachen bei prämaturer Ovarialinsuffizienz („premature ovarian insufficiency“ [POI]) sind in ihrer Inzidenz und klinischen Relevanz sehr unterschiedlich. Teilweise handelt es sich bei den in der Literatur dokumentierten genetischen Ursachen um Einzelfallbeschreibungen von Genvarianten mit sehr seltenem Vorkommen. Andere genetische Faktoren wie die FMR1-Prämutation, FOXL2-Mutationen und das Turner-Syndrom sind allerdings häufig und stehen aufgrund ihrer möglichen Folgen nicht nur für die Patienten selbst, sondern auch für ihre Verwandte bei der klinischen Diagnostik eines POI im Vordergrund. Bei den genetisch bedingten Ursachen handelt es sich um X‑chromosomal wie auch autosomal lokalisierte molekulargenetische Veränderungen oder auch um strukturelle, ganze Chromosomen betreffende, zytogenetische Veränderungen.

Schlüsselwörter

FMR1 FOXL2 Gonadendysgenesie Störungen der Geschlechtsentwicklung Chromosomenaberrationen Prämature Ovarialinsuffizienz 

Genetic causes of premature ovarian insufficiency

Abstract

Genetic causes of premature ovarian insufficiency (POI) vary greatly in incidence and clinical relevance. Occasionally, case reports of genetic variations that occur very rarely have been described in literature. However, some genetic factors such as FMR1 premutations, FOXL2 mutations, and Turner syndrome are more common, and the clinical diagnosis of POI is important for both the patients and also for her relatives. Molecular genetic causes of POI can be localized on the X chromosome or autosome. In addition, structural aberrations of whole chromosomes are associated with POI.

Keywords

FMR1 FOXL2 Gonadal dysgenesis Disorders of sex development Chromosome aberrations Premature Ovarian Insufficiency 

Notes

Einhaltung ethischer Richtlinien

Interessenkonflikt

J. Rehnitz, T. Strowitzki und P.H. Vogt geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Copyright information

© Springer Medizin Verlag GmbH, ein Teil von Springer Nature 2018
korrigierte Publikation 2018

Authors and Affiliations

  1. 1.Abteilung für Gynäkologische Endokrinologie und FertilitätsstörungenUniversitätsfrauenklinik HeidelbergHeidelbergDeutschland
  2. 2.Abteilung für Gynäkologische Endokrinologie und Fertilitätsstörungen, Sektion für Reproduktionsgenetik, Universitätsfrauenklinik HeidelbergRuprecht-Karls-Universität HeidelbergHeidelbergDeutschland

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