EVIDENCE FOR DEFICIENT 20α-CHOLESTEROL-HYDROXYLASE ACTIVITY IN ADRENAL TISSUE OF A PATIENT WITH LIPOID ADRENAL HYPERPLASIA

Enzyme preparations were isolated from post-mortem adrenal tissue of a patient with lipoid adrenal hyperplasia and normal human- and bovine adrenal tissue. Cholesterol-cleaving properties were studied in incubation experiments with the addition of appropriate substrates. Cholesterol-cleaving activity of enzyme preparations of adrenal tissue from the patient was extremely low as compared with normal controls. There was no difference in 20α-hydroxycholesterol-cleaving activity. There is thus evidence for a deficient 20α-cholesterol-hydroxylase activity in the adrenal tissue of this patient with lipoid adrenal hyperplasia.