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Genetic Steroid Disorders
Chapter 6B. The History, Biology, and Pathophysiology of Apparent Mineralocorticoid Excess
John W. Funder
Apparent mineralocorticoid excess (AME) reflects absent or impaired activity of the enzyme 11Ξ²-hydroxysteroid dehydrogenase type 2, allowing cortisol to activate epithelial mineralocorticoid receptors inappropriately. In the absence of enzyme activity patients show classic features of mineralocorticoid excess, with a diagnostic triad of hypertension, suppressed aldosterone levels, and raised urinary free cortisol:cortisone ratios. Severe AME (10%) can be diagnosed on the basis of the diagnostic triad, but do not show the associated spectrum of clinical disorders. Treatment of severely affected neonates needs to be prompt, vigorous, and appropriate in terms of rectifying electrolyte abnormalities and lowering blood pressure.
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