The autosomal recessive syndrome of apparent mineralocorticoid excess causes severe hypertension through mutations in the 11β-HSD-2 gene (Figure 3B), which render the enzyme ineffective.
Abbreviations: ACTH = adrenocorticotropic hormone; AME = apparent mineralocorticoid excess; CAH = congenital adrenal hyperplasia; DOC = deoxycorticosterone; FH-I = familial hyperaldosteronism type ...