NEW FINDINGS IN APPARENT MINERALOCORTICOID EXCESS |
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| Authors: | J DIMARTINO-NARDI E STONER K MARTIN J W BALFE P A JOSE M I NEW |
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| Institution: | The Department of Pediatrics, Division of Pediatric Endocrinology, The New York Hospital-Cornell Medical Center, 525 East 68th Street, New York, NY 10021, USA;Department of Nephrology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8;and Georgetown University Hospital, 3800 Reservoir Road, Washington, DC 20007, USA |
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| Abstract: | We report two female siblings (ages 4 and 9 years) and one 8-year-old male with the syndrome of apparent mineralocorticoid excess (AME) presenting with low renin hypertension and hypoaldosteronism. The deficiency of 11β-hydroxysteroid dehydrogenase results in a defect of the peripheral metabolism of Cortisol (F) to cortisone (E). As a result, the serum Cortisol half-life (T½) is prolonged, ACTH is suppressed, and serum F is normal. The specific diagnosis of the disorder was made by the decreased ratio of the urinary metabolites of E (tetrahydrocortisone, THE) and F (tetrahydrocortisol, THF). Continuous i.v. hydrocortisone administration caused an increase in blood pressure and decrease in serum potassium demonstrating the abnormal mineralocorticoid activity of Cortisol in these patients. Addition of spironolactone resulted in a decrease in blood pressure, rise in serum potassium and a gradual increase in plasma renin activity. These studies suggest that an abnormality in Cortisol action or metabolism results in Cortisol behaving as a potent mineralocorticoid and causing the syndrome of AME. |
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