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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Prof. Dr. med. Peter Wieacker
Institut für Humangenetik
Universitätsklinikum Magdeburg
Leipziger Straße 44
39120 Magdeburg
Email: Peter.wieacker@medizin.uni-magdeburg.de
