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The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, converts cholesterol to pregnenolone to initiate steroidogenesis. P450scc deficiency can disrupt adrenal and gonadal steroidogenesis, resembling congenital lipoid adrenal hyperplasia clinically and hormonally; only 12 such patients have been reported previously.

Varied Clinical Presentations of Seven Patients With Mutations inCYP11A1Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc