Lipoid adrenal hyperplasia

Caron, K. M., Soo, S. C., Wetsel, W. C., Stocco, D. M., Clark, B. J., and Parker, K. L. 1997. Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia. Proc. Natl. Acad. Sci. U.S.A., 94(21) 11540-11545. [Pg.521]

Lipoid adrenal hyperplasia (LAH) Star protein defect STARD1 8pll.2 600617(201710)... [Pg.577]

Fujieda K, Okuhara K, Abe S, Tajima T, Mukai T, Nakae J (2003) Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita. J Steroid Biochem Mol Biol 85 483-489... [Pg.601]

Saenger P, Klonari Z, Black SM, Compagnone N, Mellon SH, Fleischer A, Abrams CAL, Shackleton CHL, Miller WL (1995) Prenatal diagnosis of congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 80 200-205... [Pg.604]

Several en2yme defects will cause a deficiency of testosterone production during fetal development. These include 20a-hydroxylase (cholesterol 20,22-desmolase) deficiency, which prevents conversion of cholesterol to pregnenolone and results in congenital lipoid adrenal hyperplasia, so named because the adrenals are large and filled with lipoid... [Pg.2101]

Lipoid adrenal hyperplasia occasional congenital adrenal hyperplasia (CAH)... [Pg.383]

Sahakitrungruang T, Tee MK, Blackett PR, Miller WL (2011) Partial defect in the cholesterolside-chain cleavage enzyme P4505(.(. (CYPllAl) resembling nonclassic congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab 96 792-798... [Pg.752]

Baker BY, Lin L, Kim CJ, Raza J, Smith CP, Miller WL, Achermann JC (2006) Nonclassic congenital lipoid adrenal hyperplasia a new disorder of the steroidogenie aeute regulatory protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab 91 4781-4785... [Pg.873]

Succinyl-CoA 3-oxoacid-CoA transferase deT Urea cycle defects Lipoid adrenal hyperplasia Biotinidase def. [Pg.11]

Lipoid adrenal hyperplasia (StAR deficiency) Adrenals-gonads 8pI1.2 201710... [Pg.555]

Sodium-loosing states 21-FIydroxylase defect Sphydroxysteroid-dehydrogenase defect Lipoid adrenal hyperplasia 18-FIydroxylase defect 18-FIydroxysteroid-dehydrogenase defect Adrenal insufficiency Pseudohypoaldosteronism Renal insufficiency Flypoaldosteronism... [Pg.320]

AdrenalInsufGclency. Low excretion of glucocorticoid metabolites and adrenal androgen metabolites characterize the steroid profile. However, the different causes (Addison s disease, lipoid adrenal hyperplasia, and congenital adrenal hypoplasia) cannot be differentiated using urinary steroid profiling. [Pg.322]

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