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Pathway Description
Apparent Mineralocorticoid Excess Syndrome
Homo sapiens
Disease Pathway
Apparent mineralocorticoid excess (AME), also known as cortisol 11-beta-ketoreductase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the HSD11B2 gene which encodes for corticosteroid 11-beta-dehydrogenase isozyme 2, and enzyme that converts cortisol to cortisone in the cell. Without this enzyme being functional, an accumulation of tetrahydrocortisol builds up, while tetrahydrocortisone levels dissipate. AME is characterized excessive thirst and urination, and along with this, symptoms include low levels of aldosterone, failure to thrive and hypertension. Treatment with corticoids that suppress the secretion of cortisol within the body can affect blood pressure and aldosterone levels. Antihypertensive agents are also effective. It is estimated that AME affects less than 1 in 1,000,000 individuals, with less than 100 reported cases as of 2019.
References
Apparent Mineralocorticoid Excess Syndrome References
Palermo M, Quinkler M, Stewart PM: Apparent mineralocorticoid excess syndrome: an overview. Arq Bras Endocrinol Metabol. 2004 Oct;48(5):687-96. doi: /S0004-27302004000500015. Epub 2005 Mar 7.
Pubmed: 15761540
Kotelevtsev Y, Brown RW, Fleming S, Kenyon C, Edwards CR, Seckl JR, Mullins JJ: Hypertension in mice lacking 11beta-hydroxysteroid dehydrogenase type 2. J Clin Invest. 1999 Mar;103(5):683-9. doi: 10.1172/JCI4445.
Pubmed: 10074485
Steroidogenesis References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Norman, A.W, and Litwack, G. Hormones (2nd ed.) (1997) San Diego : Academic Press.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Miller WL: Molecular biology of steroid hormone synthesis. Endocr Rev. 1988 Aug;9(3):295-318. doi: 10.1210/edrv-9-3-295.
Pubmed: 3061784
HECHTER O, SOLOMON MM, ZAFFARONI A, PINCUS G: Transformation of cholesterol and acetate to adrenal cortical hormones. Arch Biochem Biophys. 1953 Sep;46(1):201-14. doi: 10.1016/0003-9861(53)90182-9.
Pubmed: 13092959
Luu-The V: Assessment of steroidogenesis and steroidogenic enzyme functions. J Steroid Biochem Mol Biol. 2013 Sep;137:176-82. doi: 10.1016/j.jsbmb.2013.05.017. Epub 2013 Jun 13.
Pubmed: 23770321
George FW, Russell DW, Wilson JD: Feed-forward control of prostate growth: dihydrotestosterone induces expression of its own biosynthetic enzyme, steroid 5 alpha-reductase. Proc Natl Acad Sci U S A. 1991 Sep 15;88(18):8044-7. doi: 10.1073/pnas.88.18.8044.
Pubmed: 1654556
Andersson S, Berman DM, Jenkins EP, Russell DW: Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature. 1991 Nov 14;354(6349):159-61. doi: 10.1038/354159a0.
Pubmed: 1944596
Emanuelsson I, Almokhtar M, Wikvall K, Gronbladh A, Nylander E, Svensson AL, Fex Svenningsen A, Norlin M: Expression and regulation of CYP17A1 and 3beta-hydroxysteroid dehydrogenase in cells of the nervous system: Potential effects of vitamin D on brain steroidogenesis. Neurochem Int. 2018 Feb;113:46-55. doi: 10.1016/j.neuint.2017.11.007. Epub 2017 Nov 21.
Pubmed: 29162485
Kimoto T, Asou H, Ohta Y, Mukai H, Chernogolov AA, Kawato S: Digital fluorescence imaging of elementary steps of neurosteroid synthesis in rat brain glial cells. J Pharm Biomed Anal. 1997 Jun;15(9-10):1231-40.
Pubmed: 9226548
Verschoor-Klootwyk AH, Verschoor L, Azhar S, Reaven GM: Role of exogenous cholesterol in regulation of adrenal steroidogenesis in the rat. J Biol Chem. 1982 Jul 10;257(13):7666-71.
Pubmed: 6282849
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