Article
A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension.
The Journal of clinical endocrinology and metabolism - 1 Mar 2001
Odermatt A, Dick B, Arnold P, Zaehner T, Plueschke V, Deregibus M N, Repetto H, Frey B M, Frey F J, Ferrari P
Abstract excerpt
Renal 11beta-hydroxysteroid dehydrogenase type 2 (11betaHSD2) is an enzyme responsible for the peripheral inactivation of cortisol to cortisone in mineralocorticoid target tissues. Mutations in the gene encoding 11betaHSD2 cause the syndrome of apparent mineralocorticoid excess (AME), an autosomal recessive form of inherited hypertension, in which cortisol acts as a potent mineralocorticoid. The mutations...
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