KIT and disorder of sexual differentiation: Besides the specific c-KIT c.816 mutations investigated here, other mutations in exon 17 have been reported in GCC; c-KIT gain-of-function D820G and Y823D [2], [10], [35], [36] have been found, next to S821F, C809S, Y823N and D816E together with D820H [12], [36] amongst others, which are not present in the cases analyzed here, and thus do not seem to be involved in ovarian dysgerminomas or DSD.