46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see 163950) (summary by Mann et al., 1983).
For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). [from
OMIM]