I don't know how CAH is formally diagnosed. Most reports of diagnosed cases seem to involve genetic testing. What happens to obvious cases of CAH when the genetics don't match expectations?But according to the medical definition, 3 beta-HSD deficiency should result in elevated pregnenolone, 17-hydroxy pregenolone, and DHEA.
At the same time, it should cause low or reduced levels of progesterone, 17-hydroxy progesterone, aldosterone, and cortisol.
And -
Elevated testosterone in women, from excess DHEA being converted to testosterone in the liver.
With reduced testosterone in men, from this testosterone shutting down normal male androgen production but not being enough to replace it.
