... mutation causing nonclassic lipoid congenital adrenal hyperplasia, representing the largest cohort of such patients from a single geographic area. In the remaining 2 patients, no clear etiology was identified. Conclusions: We recommend genetic testing for patients who have negative anti-adrenal antibodies...

... into mitochondria. Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia. Objective and Methods: To identify causative mutations in a patient presenting with adrenal failure during early infancy. The objective was to study the functional and structural consequences of the novel StAR mutation...