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All are sex chromatin negative and have a normal 46 XY male karyotype. Streak gonads were surgically removed from the proposita, and one contained a microscopic focus of sex-cord tumor.
In this study, three unrelated 46,XY children (0.5, 3, and 8 years old) who presented severe undermasculinization at birth were examined for genetic abnormalities in the SRD5A2 gene.
The karyotype of males and females may differ. For example, in humans the male karyotype contains an X and a Y chromosome while in human females there are two X chromosomes There are karyotypic ...