Acquired adrenal hyperplasia: with special reference to 3 beta-hydroxysteroid dehydrogenase

Acquired virilism in adult females amy be due to a number of primary disorder of the adrenal or the ovary, or both. In this review, HSD deficiency has been presented as one distinct cause. Its diagnosis as described in the report by Rosenfield and his co-workers depends upon several features. The urinary pattern of delta 5-3 beta-ol metabolites should be typical of that of congenital HSD deficiency. The excretion of pregnenetriol as compared with pregnanetriol (although the latter is usually high) should show a preponderance of the former. The elevation of 16-hydroxy compounds in the urine is also characteristic. The plasma steroids having the delta 5-3 beta-ol configuration should be elevated to an extent not seen in any other disorder except with an adrenal tumor. Specifically, plasma 17-hydroxypregnenolone levels will be extremely elevated, as will DHEA and the DHEAS levels. In the initial stage of diagnosis, one might initiate the work-up by determining the plasma DHEA and DHEAS concentrations so that, when these are distinctly elevated, one may proceed to further study. In the extremely mild forms it will probably be necessary to apply adrenal stimulation with ACTH in order to bring the abnormal pattern into perspective.