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Okuyama et al. (1) recently reported a case of congenital lipoid adrenal hyperplasia (lipoid CAH) caused by a splicing mutation in the gene for the steroidogenic acute regulatory protein (StAR). In citing the relevant literature, they pointed out that nearly all patients with the lipoid CAH phenotype have been found to have StAR mutations. In two large series, Bose et al. (2) and Nakae et al. (3) found StAR mutations in 39 of 40 patients. Lipoid CAH was formerly misnamed 20,22 desmolase deficiency and was thought to be caused by mutations in P450scc (4–6), the cholesterol-side chain cleavage enzyme that converts cholesterol to pregnenolone, but these patients were recently shown to lack P450scc mutations (7) and have StAR mutations (8). Nevertheless, three factors have contributed to the persistence of the notion that some of these patients may harbor P450scc mutations: first, the weight of history and the lingering misnomer of 20,22 desmolase deficiency; second, the failure to find a StAR mutation in Bose’s patient #14 (2); third and most important, the description by Yang et al. that rabbits that are homozygous for P450scc gene deletions have a phenotype that very closely corresponds with lipoid CAH (9). While we cannot be certain that all patients with lipoid CAH will have StAR mutations (especially in view of Bose’s patient #14), we can be quite confidant that P450scc mutations will never be found in a liveborn human being. The reasons for this were outlined recently (10) but are presented in more detail below.

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