I was diagnosed with 3beta-hsd ncah. According to an article in the latest caresfoundation newsletter,
"In fact, to date, there has been no patient with 3β-HSD deficient NCAH who presented as a hyperandrogenic adult woman. These and other investigators have also observed that the vast majority of individuals who have elevated or exaggerated 17-hydroxypregnenolone or DHEA values following ACTH stimulation actually have a form of PCOS and do not have NCAH."
http://www.caresfoundation.org/news_letter/fall06/fall06_page_1.htm
From the same article,
"others and we have demonstrated that the elevations in 17-hydroxypregnenolone and DHEA present in hyperandrogenic women are relatively mild, generally not exceeding two-fold the upper normal limit found in healthy women."
My 17OH Pregnenolone (basal - 39, stimulated - 1540ng/dl) though is about 7-fold the upper normal reference range for adult females (226 ng/dl).
What do you make of it?
Is there anybody else with 3beta-hsd diagnosis with levels exceeding 3-fold the normal?
