Glucocorticoid-remediable aldosteronism (GRA) is a monogenic form of human hypertension that predisposes to cerebral hemorrhage. As a result of a chimeric. Glucocorticoid-remediable aldosteronism (GRA), alternatively called dexamethasone-suppressible hyperaldosteronism (DSH) or familial hyperaldosteronism. Aldosterone suppression by dexamethasone, and high hydroxycortisol and oxocortisol levels are used to differentiate glucocorticoid-remediable.

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Mouse models of aortic aneurysms have identified a significant role of aldosterone in the pathogenesis of aortic aneurysms. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone.

How to cite this article. Aldosterone suppression by dexamethasone, and high hydroxycortisol and oxocortisol levels are used to differentiate glucocorticoid-remediable aldosteronism GRA from other forms of primary aldosteronism. None of our cases with primary aldosteronism were positive for the chimeric gene of GRA. Treatment with low dose glucocorticoids is effective 18 by providing feedback suppression of pituitary ACTH release, which suppresses the abnormal regulation of aldosterone secretion.

Case Reports in Endocrinology

In 11 additional GRA pedigrees all subjects proved aodosteronism have chimeric gene duplications, but in these subjects a minimum of eight independent mutations with five different sites of crossing over were identified 7. Hemorrhagic stroke Early, often fatal, cerebrovascular complications in GRA remedianle were sporadically reported by earlier investigators.

A dexamethasone suppression test can be a useful screening maneuver; genetic screening and the measurement of urinary oxosteroids are diagnostic.

Genetic recombination as a cause of inherited disorders of aldosterone and cortisol biosynthesis and a contributor to genetic variation in blood pressure. Steroid hormones are synthesized from cholesterol within the adrenal cortex.

Hypokalemia Most patients with GRA have normal potassium levels 8 despite biochemical evidence for primary hyperaldosteronism. It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide.

Correspondence to Graham T. The unique steroidogenesis of the aldosteronoma in the differential diagnosis of primary aldosteronism. Clues pointing to a possible diagnosis of GRA include early onset of hypertension in youth, a family history of early onset hypertension or early cerebral hemorrhage, precipitation of hypokalemia when treated glucocortcioid potassium-wasting diuretics, and refractory hypertension to standard treatments figure 2.


This variability in blood pressure levels in GRA may relate to other hereditary factors that regulate blood pressure or environmental factors such as variation in dietary sodium intake. There was no evidence of cardiac anomalies of bicuspid valve on echocardiograph. Genetic screening of random hypertensive individuals by contrast is not efficacious CT angiogram Figure 1 demonstrated chronic dissection of the aortic arch not shown in figure terminating at thoracic stent and extending into the innominate and common carotid arteries and a pseudoaneurysm of the distal thoracic aorta just above the celiac artery Figures 1 and 2.

His cardiovascular history was notable for 3 aortic dissections, at ages of 10, 17, and 22, mid-thoracic aortic aneurysm requiring endovascular repair at the age of 18, and abdominal aortic aneurysm which required open surgical repair at the age of The first-line treatment of GRA is the nightly use of dexamethasone or prednisone in doses sufficient to suppress early morning surges in ACTH and normalize blood pressure [ 21 ].

GRA is an autosomal-dominant disorder and is the most common monogenic cause of human hypertension. Glucocorticoid-remediable aldosteronism in a large kindred: Glucocortifoid Engl J Med ; Disease definition Familial hyperaldosteronism type I FH-I is a rare heritable, glucocorticoid remediable form of primary aldosteronism PA characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity PRAand abnormal production of oxocortisol and hydroxycortisol.

In a retrospective report, eighty percent of 20 children under the age of 18 who carried the genetic mutation had hypertension by the age of 13 years; blood pressures also correlated within sibling pairs. Glucocorticoid remediable aldosteronism Specialty Endocrinology Glucocorticoid remediable aldosteronism GRAalso describable as aldosterone synthase hyperactivityis an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient.

Glucocorticoid-remediable aldosteronism GRAalternatively called dexamethasone-suppressible hyperaldosteronism DSH or familial hyperaldosteronism type I, a mineralocorticoid-excess state characterized by low PRA, is now a well-established subset of primary aldosteronism. Of patients, aldosterknism were identified as having aldosterone-producing adenoma and 74 as having idiopathic hyperaldosteronism. In this disorder the cortisol-producing zona fasciculata ectopically produces aldosterone under the regulation of ACTH.


We evaluated a large population of patients with primary aldosteronism in whom both PCR and dexamethasone suppression testing were employed. glucocoeticoid

Glucocorticoid-remediable aldosteronism

However, they were not able to show a difference in basal plasma aldosterone concentrations between affected and unaffected GRA siblings to support this hypothesis, but the numbers of normal siblings studied was small. Another clue is a prominent family history of mortality or morbidity from early hemorrhagic stroke. Comprehensive endocrinology, revised series.

GRA is usually characterized by severe hypertension with onset early in life 9. Aldosterone blood levels glucoocrticoid urinary aldosterone excretion rates are usually normal or mildly elevated, aldosteromism the levels may be inappropriate for the intake of sodium since production is solely regulated by ACTH. Our population was composed by subjects with primary aldosteronism ascertained by hormonal and morphological findings.

From Wikipedia, the free encyclopedia. A new form of congenital adrenal hyperplasia. Gastrointestinal symptoms such as nausea may be ameliorated if the drug is taken with food.

Subjects with GRA have two normal copies of genes encoding aldosterone synthase and 11 b -hydroxylase, but they also have an abnormal gene duplication. Under normal conditions, aldosterone production is regulated by the renin-angiotensin system and potassium balance. Infobox medical condition new Articles to be expanded from February All articles to be expanded Articles with empty sections from February All articles with empty sections Articles using small message boxes.

Glucocorticoid remediable aldosteronism

None of our patients, including 2 pairs of siblings, was positive for the chimeric gene. Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population? Hypofunction Diabetes mellitus types: The 2 pairs of siblings did not show a significant fall in aldosterone after dexamethasone treatment.

Potassium levels Normokalemia in GRA-affected patients was first described by Grim and Weinberger 4Abut it was believed to be uncommon.