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Genetik des PCO-Syndroms

  • Leitthema
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Gynäkologische Endokrinologie Aims and scope

Zusammenfassung

Die genetischen Hintergründe des PCOS sind noch weitgehend ungeklärt. Familienanalysen lassen überwiegend einen autosomal-dominanten Hintergrund vermuten. Vor allem Gene der adrenalen und ovariellen Steroidbiosynthese sowie des Insulinstoffwechsels sind bezüglich ihres Zusammenhanges mit der Pathogenese des PCOS untersucht worden. Polymorphismen des CYP11A-Gens sind am ehesten mit PCOS assoziiert. Bei 20–30% der PCOS-Patientinnen mit pathologischem ACTH-Test finden sich Mutationen im CYP21B-Gen. Im Insulinstoffwechsel finden sich Varianten im Insulinrezeptorgen und im Gen des TNF-Rezeptors 2 mit dem PCOS assoziiert. Zusammenfassend ließen sich jedoch bisher keine eindeutigen und in unabhängigen Kollektiven reproduzierbare Befunde nachweisen, die für den sicheren pathogenetischen Zusammenhang eines Kandidatengens mit dem PCOS sprechen.

Abstract

The genetic background of PCOS is still a matter of debate and widely unknown. Family studies show some correlation with an autosomal dominant pattern of inheritance. In particular, genes of adrenal and ovarian steroid biosynthesis and insulin metabolism have been extensively examined. There is good evidence for an association of polymorphisms of the CYP11A gene with PCOS. Furthermore, 20–30% of PCOS patients with a pathological ACTH test show mutations of the CYP21B gene. Concerning insulin metabolism, variations of the insulin receptor gene and the TNF receptor 2 gene have been described. However, today there is no definite proof for the existence of candidate genes for PCOS in groups of exactly defined and carefully analyzed PCOS patients.

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Authors and Affiliations

  1. Abteilung Gynäkologische Endokrinologie und Fertilitätsstörungen, Universitätsklinikum Heidelberg

    T. Strowitzki & S. Eisenhardt

  2. Abteilung Innere Medizin I, Endokrinologie und Stoffwechsel, Universitätsklinikum Heidelberg

    A. Hamann

  3. Molekulargenetisches Labor, Gemeinschaftspraxis Raue, Frank-Raue, Hentze, Heidelberg

    E. Schulze

  4. Universitätsklinikum Heidelberg, Frauenklinik, Voßstraße 9, 69115 , Heidelberg

    T. Strowitzki

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  1. T. Strowitzki
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Correspondence to T. Strowitzki.

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Strowitzki, T., Hamann, A., Eisenhardt, S. et al. Genetik des PCO-Syndroms. Gynäkologische Endokrinologie 1, 61–66 (2003). https://doi.org/10.1007/s10304-003-0013-x

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