Genetische Aspekte der XY-Gonadendysgenesie

Zusammenfassung

Die männliche Geschlechtsdifferenzierung ist das Ergebnis einer Kaskade von genetischen, hormonellen und zellulären Signalen. Gene der Gonadendifferenzierung können in Gene, die in der Entwicklung der bipotenten Gonaden involviert sind, und solche eingeteilt werden, die für die Testisdifferenzierung verantwortlich sind. Im Laufe der Evolution haben unterschiedliche Gene dieser Kaskade die Dominanz als testisdeterminierende Faktoren übernommen. Dementsprechend führen Mutationen aller dieser Gene zur XY-Gonadendysgenesie. Diagnostik, Differenzialdiagnostik und die Möglichkeiten genetischer Testung werden besprochen.

Abstract

Male sexual differentiation is the result of a signal cascade including genetic, endocrine and cellular factors. Genes of male gonadal differentiation can be classified into genes involved in the development of the bipotent gonads and genes responsible for testis differentiation. During evolution different genes of this cascade were predominant as testis-determining factors. Consequently, mutations of all these genes are causative for XY gonadal dysgenesis. Diagnosis, differential diagnosis and genetic testing of this group of sex disorders are discussed.

Schlüsselwörter

XY-Gonadendysgenesie - Geschlechtsdifferenzierung - Gendiagnostik

Key words

XY gonadal dysgenesis - sex differentiation - genetic testing

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