Abstract
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 [1]. 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.
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Nimkarn, S. (2011). Apparent Mineralocorticoid Excess – Update. In: New, M., Simpson, J. (eds) Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference. Advances in Experimental Medicine and Biology, vol 707. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-8002-1_10
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