A CASE OF ADRENOGENITAL SYNDROME WITH ABERRANT 11β-HYDROXYLATION

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Abstract
A 17 yr old female patient with hypertension, amenorrhea and hirsutism had subnormal levels of plasma and urinary cortisol, significant plasma levels of Reichstein''s compound S [17.alpha.-hydroxy-4-pregnene-3,20-dione] and 21-deoxycortisol, high urinary levels of THS [tetrahydro-17.alpha.-hydroxy-4-pregnene-3,20-dione] and pregnanetriolone, and elevated levels of plasma and urinary testosterone. Treatment with 0.5 mg/day of dexamethasone or 25 mg/day cortisone reduced hypertension and restored her menstrual cycles, but also resulted in the development of moon face, body striae and weight gain. Lower doses of cortisone were without effect. The deficient cortisol production coupled with the presence of unusual intermediates such as Reichstein''s compound S and 21-deoxycortisol can be explained by a shift in the substrate specificity of 11.beta.-hydroxylase from C-21-hydroxylated substrates (i.e., compound S) to C-21-deoxy substrates (i.e., 17-hydroxyprogesterone).