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Purified CYP11B2 catalyzed the multi-hydroxylation reactions of the substrate (11-deoxycorticosterone) giving corticosterone, 18-hydroxydeoxycorticosterone, 18-hydroxycorticosterone, and significant amount of aldosterone as products, while purified CYP11B1 catalyzed only 11[beta]- and 18-hydroxylations of the same substrate to yield corticosterone and 18-hydroxydeoxycorticosterone, respectively (refer to Fig.
Due to the presence of intact 11 beta-hydroxylase 2 (CYP11B2), serum concentrations of all potent mineral corticoids (corticosterone, 18-hydroxycorticosterone, and aldosterone) are typically increased above the normal reference range.13 The final diagnosis is based on genetic testing which is not available in Pakistan.
In 17OHD, decreased cortisol secretion causes increased ACTH production, which results in overproduction of 17-deoxysteroids (DOC, corticosterone and 18-hydroxycorticosterone) by the adrenal cortex.