Apparent Mineralocorticoid Excess – Update
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Apparent mineralocorticoid excess (AME) is a rare inherited form of hypertension caused by 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD) deficiency. The disorder was first described biochemically and hormonally in 1977 by New et al. in a Native American girl with severe hypertension . The syndrome is caused by non-functional mutations in HSD11B2 on chromosome16q22. More than 40 causative mutations have been described. AME defined an important “pre-receptor” pathway in steroid hormone action and their specificities to the receptor.
KeywordsMineralocorticoid Receptor Severe Hypertension Causative Mutation Metabolite Ratio Tritiated Water
- 6.New MI, Oberfield SE, Carey RM, Greig F, Ulick S, Levine LS (1982) A genetic defect in cortisol metabolism as the basis for the syndrome of apparent mineralocorticoid excess. In: Mantero F, Biglieri EG, Edwards ERW (eds) Endocrinology of Hypertension, Serono Symposia No 50. Academic, New York, NY, pp 85–101Google Scholar