1. Miller WL. Lessons from congenital lipoid adrenal hyperplasia. Curr Opinion Endocrinol Diabetes.1998;5:155-161.
2.
2. Lin D, Sugawara T, StraussJF III, et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science. 1995;267: 1828-1831.
3.
3. Nakae J, Tajima T, Sugawara T, et al. Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Mol Genet.1997;6:571-576.
4.
4. Lee MM, Donahoe PK, Hasegawa T, et al. Mullerian inhibiting substance in humans: normal levels from infancy to adulthood. J Clin Endocrinol Metab.1996;81:571-576.
5.
5. Prader A, Gurtner HP. Das syndrom des Pseudohermaphroditismus masculine bei kongenitaler Nebennierenridenhyperplasie ohne Androgenuberxproduktion (adrenaler Pseudohermaphroditismus masculinus). Helv Paediatr Acta.1955;10:397-412.
6.
6. Prader A, Siebenmann RE. Nebennierensuffizienz bie kongenitaler Lipoidhyperplasie der Nebennieren. Helv PaediatrActa.1957;12:569-595.
7.
7. Prader A, Anders CJPA. Zur Genetik der kongenitalen Lipoidhyperplasie der Nebennieren. Helv Paediatr Acta.1962;7:285-289.
8.
8. Miller W. Congenital lipoid adrenal hyperplasia: the human gene knockout of the steroidogenic acute regulatory protein. J Mol Endocrinol.1997;19:227-240.
9.
9. Shimizu K, Hayano M, Gut M, Dorfman RI. The transformation of 20α-hydroxycholesterol to isocaproic acid and C21 steroids. J Biol Chem.1961;236:695-699.
10.
10. Degenhard HJ, Visser KHA, Boon H, O'Doherty NJD. Evidence for deficiency of 20a, cholesterol hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. Acta Endocrinol.1972;71:512-518.
11.
11. Koizumi S, Kyoya S, Miyawaki T, et al. Cholesterol side-chain cleavage enzyme activity and cytochrome P450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease). Clin Chim Acta.1977;77:301-306.
12.
12. Lin D, Gitelman SE, Saenger P, Miller WL. Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. Clin Invest.1991;88:1955-1962.
13.
13. Bose HS, Sugaware T, Strauss JF III, Miller WL. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med.1996;335:1870-1878.
14.
14. Stocco DM. An update on the mechanism of action of the steroidogenic acute regulatory (stAR) protein. Exp Clin Endocrinol Diabetes.1999;107:229-235.
15.
15. Conn PM, (ed). The steroidogenic acute regulatory protein (StAR): a window into the complexities of intracellular cholesterol trafficking. Recent Progress in Hormone Research. Proceedings of the 1998 conference of Recent Progress in Hormone Research, 1998, Washington. Maryland: The Endocrine Society, 2000.
16.
16. Bose H, Pescovitz OH, Miller WL. Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia caused by a homozygous frame-shift mutation in the steroidogenic acute regulatory protein. J Clin Endocrinol Metab.1997;82:1511-1515.