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Grundlagen und Klinik der Störungen der Geschlechtsentwicklung

Basic knowledge and clinical symptoms of disorders of sexual development

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Zusammenfassung

Unter Störungen der Geschlechtsentwicklung („disorders of sex development“, DSD) werden klinisch heterogene, angeborene Abweichungen von der normalen geschlechtlichen Determinierung und Differenzierung sowie komplexe Syndrome mit Einbeziehung der genitalen Entwicklung zusammengefasst. Die Inzidenz beträgt in Deutschland etwa 1:4500 Neugeborene. Klinisch zeigt sich meist bei der Geburt ein uneindeutiges Genitale, jedoch können auch die ausbleibende Menarche oder eine Virilisierung beim Mädchen im Pubertätsalter auf eine Störung der Geschlechtsentwicklung hinweisen. Störungen der Geschlechtsentwicklung sind nicht auf das Genitale beschränkt, sondern können aufgrund des spezifischen embryonalen Expressionsmusters zugrunde liegender Gene weitere Organe wie Niere und Nebenniere einbeziehen und sind mit einer erhöhten Rate späterer Geschlechtsidentitätsstörungen assoziiert.

Abstract

Disorders of sex development (DSD) comprise a heterogeneous group of inborn errors of sexual determination and differentiation as well as syndromes with associated genital malformations. In Germany, the incidence is about 1 in 4,500 newborns. The key sign at birth is ambiguous external genitalia. However, virilization and the absence of menarche in girls at pubertal age may also indicate DSD. DSD are not restricted to genital malformations; other organs, such as the kidneys and adrenals, may be involved as a consequence of specific expression patterns of underlying genes in the developing embryo. DSD are also associated with an increased rate of gender identity disorders.

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  1. Bereich Pädiatrische Endokrinologie und Diabetologie, Klinik für Allgemeine Pädiatrie, Universitätklinikum Schleswig-Holstein, Campus Kiel, Schwanenweg 20 , 24105, Kiel, Deutschland

    P.-M. Holterhus

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Holterhus, PM. Grundlagen und Klinik der Störungen der Geschlechtsentwicklung. Monatsschr Kinderheilkd 156, 217–225 (2008). https://doi.org/10.1007/s00112-008-1676-0

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