Cytomegalic Adrenocortical Hypoplasia and Increased Plasma 20α-Hydroxypregn-4-en-3-one in a Man Exhibiting the Features of Selective Mineralocorticoid Deficiency1

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Abstract
This report describes a man who developed adrenocortical dysfunction late in adult life, characterized mainly by manifestations of aldosterone deficiency; 17-hydroxycorticoids were normal but unresponsive to exogenous ACTH; urinary 17-ketosteroids were high normal; urinary pregnanetriol was slightly elevated and pregnanediol was increased substantially. These findings at first suggested that this case might represent a peculiar variant of the salt-losing type of CAH.3 However, in view of the atypical preponderance of urinary pregnanediol rather than pregnanetriol, plasma steroid analyses were performed to determine whether the increased urinary pregnanediol was derived from progesterone, which would be expected if it reflected a 21-hydroxylation defect. Surprisingly, the plasma progesterone level was very low, but the plasma contained a high concentration of 20α-OH-P. These findings suggested that the increased excretion of urinary pregnanediol was derived from 20α-OH-P rather than progesterone. The patient died at the age of 62 yr as the result of a massive myocardial infarction. The adrenals obtained at autopsy revealed a remarkable appearance. Grossly, they were hypoplastic; and microscopically the normal cortical tissue was almost completely replaced by atypical, large cells with finely granular, acidophilic cytoplasm; only a few, scattered nests of more typical, lipid-rich, adrenocortical cells were found in the subcapsular region. This morphologic picture was identified as the cytomegalic type of congenital adrenal hypoplasia, a rare entity observed in neonatal infants dying of adrenocortical insufficiency after several weeks of life. Neither the finding of this histopathologic picture, nor the high plasma level of 20α-OH-P has been described previously in an adult human. It has been concluded that the morphologic abnormality in this case resulted not only in impaired secretion of active corticoids, but also in the secretion of 20α-OH-P.

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