Apparent mineralocorticoid excess syndrome

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...

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... 

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. 

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