New findings in apparent mineralocorticoid excess.
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 11 beta-hydroxysteroid dehydrogenase results in a defect of the peripheral metabolism of cortisol (F) to cortisone (E). As a result, the serum cortisol half-life (T1/2) 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.
DiMartino-Nardi
J
J
Department of Pediatrics, New York Hospital-Cornell Medical Center, NY 10021.
Stoner
E
E
Martin
K
K
Balfe
J W
JW
Jose
P A
PA
New
M I
MI
D000324:Adrenocorticotropic Hormone; D000450:Aldosterone; D002648:Child; D002675:Child, Preschool; D003348:Cortisone / Q000378:metabolism; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D006973:Hypertension / Q000378:metabolism*; D006994:Hypoaldosteronism / Q000378:metabolism* / Q000503:physiopathology; D007008:Hypokalemia / Q000378:metabolism* / Q000503:physiopathology; D008297:Male; D008901:Mineralocorticoids / Q000378:metabolism*; D012083:Renin / Q000097:blood*; D012964:Sodium / Q000378:metabolism; D012982:Sodium, Dietary / Q000008:administration & dosage; D013148:Spironolactone / Q000627:therapeutic use; D013577:Syndrome
D008901:Mineralocorticoids; D012982:Sodium, Dietary; D013148:Spironolactone; D000450:Aldosterone; D000324:Adrenocorticotropic Hormone; D012964:Sodium; D012083:Renin; D003348:Cortisone; D006854:Hydrocortisone