Enzyme Defects in Adrenal and Ovary: Deficient 20-22-Desmolase (P450scc)
May 20th, 2005block in this step prevents conversion of cholesterol to pregnenolone, the necessary precursor to all biologically active steroids. The adrenals are enlarged and filled with cholesterol esters. Predictably, the internal and external genitalia are female, and death occurs.