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Autor:
Paul Saenger, N. Compagnone, Stephen M. Black, Z. Klonari, Synthia H. Mellon, A. Fleischer, W. L. Miller, C. A. L. Abrams, C. H. L. Shackelton
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 80:200-205
Congenital lipoid adrenal hyperplasia (lipoid CAH) is a rare genetic disorder of adrenal and gonadal steroidogenesis of unknown cause in which cholesterol cannot be converted to pregnenolone. As a result, affected individuals can make no steroid horm