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Genetische Grundlagen bei Varianten der Geschlechtsentwicklung

Genetic principles of differences of sex development

  • Leitthema
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Gynäkologische Endokrinologie Aims and scope

Zusammenfassung

Ursachen für das Auftreten von Varianten der Geschlechtsentwicklung („differences of sex development“ [DSD]) sind mannigfaltig und können sich während der embryonalen wie auch während der fetalen Entwicklung manifestieren. Dabei spielen numerische und strukturelle Varianten der Geschlechtschromosomen ebenso eine Rolle wie einzelne Gene, die in der gonadalen Determinierung (Festlegung der Keimdrüsen) und Differenzierung (geschlechtsspezifische Entwicklung des inneren und äußeren Genitales) involviert sind. Daneben sind Störungen der Steroidhormonbiosynthese oder der Steroidhormonrezeptoren wie auch maternale Faktoren an der Entstehung von DSD beteiligt. In diesem Beitrag werden die wichtigsten DSD-assoziierten Gene der gonadalen Determinierung und Differenzierung und die DSD-Klassifikation der Chicagoer Konsensuskonferenz vorgestellt.

Abstract

There are manifold reasons for the occurrence of differences of sex development (DSD). They can become manifested during embryonal as well as fetal development. Numeric and structural variants of sex chromosomes as well as single genes involved during gonadal determination and differentiation (sex-specific development of internal and external genitalia) all play a role. In addition, disorders affecting steroidogenic hormone synthesis or steroid hormone receptors and maternal factors are involved in the development of DSD. This article reviews the most important DSD-associated genes of gonadal determination and differentiation and gives presents the DSD classification according to the Chicago consensus conference.

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Danksagung

Ich danke Frau Dr. Petra Frank-Herrmann und Herrn Prof. Dr. rer. nat. Peter H. Vogt für die kritische Durchsicht des Manuskripts und ihre Verbesserungsvorschläge.

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  1. Abteilung für Gynäkologische Endokrinologie und Fertilitätsstörungen, Sektion Reproduktionsgenetik, Frauenklinik, Ruprecht-Karls-Universität Heidelberg, Im Neuenheimer Feld 440, 69120, Heidelberg, Deutschland

    Julia Rehnitz

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Correspondence to Julia Rehnitz.

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T. Strowitzki, Heidelberg

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Rehnitz, J. Genetische Grundlagen bei Varianten der Geschlechtsentwicklung. Gynäkologische Endokrinologie 19, 11–18 (2021). https://doi.org/10.1007/s10304-020-00359-2

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