Glucocorticoid remediable aldosteronism: a case report.
Glucocorticoid remediable aldosteronism (GRA) is a hereditary cause of mineralocorticoid hypertension. The most common presentation is asymptomatic hypertension. Hypokalemia, hyperaldosteronism and suppressed plasma renin activity are other forms of primary hyperaldosteronism. However, the aldosterone secretion in these patients is regulated by adrenocortico-tropic hormone (ACTH) rather than the reninangiotension system. Here, we report a patient with a 12-year history of hypertension without response to any treatment until dexamethasone was administered. The diagnosis of GRA was confirmed by elevated plasma level of 18-oxocortisol, which is a unique steroid biochemical abnormality of this disease. In GRA, hybrid steroids (18-oxocortisol and 18-hydroxycortisol) are synthesized at the C-18 carbon of cortisol in a similar way as when corticosterone is converted to aldosterone. The gene duplication defect is on chromosome 8 codes for a chimerical 11 beta-hydroxylase/aldosterone synthase enzyme, causing ectopic expression of aldosterone synthase in zona fasiculata. Because this hypertension is remediable by exogenous glucocorticoid, this case was reported to raise attention about treatable aldosteronism.
Hsieh
C J
CJ
Department of Internal Medicine, Chang Gung Memorial Hospital, Kaoshiung, Taiwan, R.O.C.
Wang
P W
PW
Liu
J C
JC
Tung
S C
SC
Chien
W Y
WY
Lu
Y C
YC
Kuo
M C
MC
D000324:Adrenocorticotropic Hormone / Q000502:physiology; D000368:Aged; D003907:Dexamethasone / Q000627:therapeutic use*; D005938:Glucocorticoids / Q000627:therapeutic use*; D006801:Humans; D006854:Hydrocortisone / Q000031:analogs & derivatives / Q000097:blood; D006929:Hyperaldosteronism / Q000188:drug therapy*; D006973:Hypertension / Q000188:drug therapy / Q000209:etiology; D008297:Male
D005938:Glucocorticoids; C038135:18-oxocortisol; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone