Plasma steroids in 3 beta-hydroxysteroid deshydrogenase (3 β OH-D) deficiency

It is demonstrated that measurement of plasma DHA andΔ4 A allows easy diagnosis of 3 β OH-D deficiency, with or without apparent salt loss, and that a limited increase of 17 OH-P, possibly related to an extra-adrenal 3 βOH-D activity, may paradoxically be an index leading to further diagnosis based upon elevated DHA/Δ 4 A ratio.