DSD mit 46, XY Karyotyp mit vollständigem oder partiellem Fehlen der Androgenwirkung.
Hierzu gehören die vollständige oder partielle Gonadenndysgenesie, Hormonsynthesestörungen (wie z.B 5-a -Reductase oder 17ß-Hydroxy-Steroid-Dehydro... Defizienz und andere Enzymstörungen), Leydig-Zell Hypo- oder Aplasie, vollständige oder partielle Androgen-Insensitivität (CAIS / PAIS), ovotesticuläres DSD (bisher wahrer Hermaphroditismus) und andere.
www.netzwerk-dsd.uk-sh.deA new nomenclature and classification has been suggested by the joint LWPES and ESPE consensus meeting ( Chicago, Oct 2005 ), delineating DSD with 46, XX karyotype and signs of androgen excess, namely congenital adrenal hyperplasia ( CAH ), and those with 46, XY karyotype and signs of complete or partial lack of virilization.
The latter include complete or partial gonadal dysgenesis, disorders of hormone synthesis and action (e.g. 5-α -reductase or 17ß-hydroxysteroid-dehydrog... deficiency and other enzyme deficiencies), Leydig cell hypo- or aplasia, complete or partial androgen-insensitivity syndrome (AIS), ovotesticular DSD (true hermaphroditism), and others.
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