Apparent mineralocorticoid excess

Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CHL, Funder JW, New MI. A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinology Metab 80 1995 2263-2266. 

Apparent mineralocorticoid excess syndrome (AME). 11/1HSD 2 deficiency HSD11B2 16q22 218030(207765)... 

Table 5.3.8 Diagnosis of apparent mineralocorticoid excess syndrome (AME) by urine steroid analysis...

Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, Funder JW, Shackleton CH, Bradlow HL, Wei JQ, Hertecant J, Moran A, Neiberger RE, Balfe JW, Fattah A, Daneman D, Akkurt HI, De Santis C, New MI (1998) Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab 83 2244-2254... 

Nikkila H, Tannin CM, New MI, Taylor NF, Kalaitzoglou G, Monder C, White PC (1993) Defects in the HSD11 gene encoding 11/J-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11 -oxoreductase deficiency. J Clin Endocrinol Metab 77 687-691... 

Ulick S, Levine LS, Gunczler P, Zanconato G, Ramirez LC, Rauh W, Rosier A, Bradlow HL, New MI (1979) A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab 49 757-764... 

New MI, Wilson RC Steroid disorders in children congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA 96 12790-12797,1999. 

The type I corticosteroid receptor (mineralocorticoid receptor) binds cortisol and aldosterone with equal affinity. Because the circulating level of cortisol normally exceeds that of aldosterone by about 1000-fold (Table 32-1), activation of the receptor by aldosterone would probably not occur, were it not for the presence of a cortisolinactivating enzyme in cells responsive to aldosterone. This enzyme, llySHSD (Chapter 30), catalyzes the conversion of cortisol to cortisone, a metabolite that is not recognized by the receptor. Inhibition or absence of this enzyme leads to excessive aldosterone-like effects due to receptor activation by cortisol, a condition referred to as apparent mineralocorticoid excess (AME). AME can... 

M. New The prismatic case of apparent mineralocorticoid excess. Journal of Clinical Endocrinology and Metabolisml9, 1 (1994). 

The inhibition of 1 lP-OHSD by licorice can mimic the syndrome of apparent mineralocorticoid excess produced by congenital deficiency of this enzyme. For example, there is a rise in free urinary cortisol, and a decreased urinary ratio of cortisone to cortisol metabolites in both situations (Stewart et al., 1987). However, the elevated urinary ratio of 5 3-tetrahydrocortisol to 5a-tetrahydrocortisol that occurs with licorice ingestion is the opposite of the finding expected in children with the syndrome of apparent mineralocorticoid excess (Stewart et al., 1987). 

The major disease clearly linked with disordered sodium homeostasis, among other diseases, is hypertension, and this is observed in very small populations with genetic defects including glucocorticoid-responsive aldosteronism, Liddle syndrome, and apparent mineralocorticoid excess (AME) (Anke 2002). Cystic fibrosis is another genetically determined defect in the chloride channels. This leads to the secretion of sweat with high NaCl concen-... 

White PC, Mune T, Agarwal AK. 11 (3-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 1997 18 135-156. 

Negro, A., E. Rossi, G. Regolisti, and R Perazzoli. 2000. Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess A case report. Ann. ltd. Med. Int. 15(4) 296-300. 

Apparent mineralocorticoid excess (HSD11B2 deficiency)) Kidneys, adrenals, placenta 16q22 218030... 

Table 29.8. ll/ -Hydroxysteroid dehydrogenase type II deficiency (apparent mineralocorticoid excess) ... 

Hydroxysteroid Dehydrogenase DeGciency. Failure to thrive, polyuria, polydipsia, hypertension, hypokalemia, and nephrocalcinosis are the symptoms for apparent mineralocorticoid excess due to lip hydroxysteroid dehydrogenase deficiency (cortisol oxidase deficiency) and/or a steroid ring A reductase defect [31]. In the urinary steroid profile, the excretion of THE is much too low compared with the high THF, 5a-THF and free cortisol excretion [32]. 

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