Humans ; Hyperaldosteronism/therapy* ; Aldosterone ; Hypertension

Humans ; Hyperaldosteronism/therapy* ; Aldosterone ; Hypertension

Humans ; Hyperaldosteronism/surgery* ; Hypertension/drug therapy* ; Technology

OBJECTIVETo report the clinical characteristics, biochemical profiles, diagnosis and treatment of one Chinese pedigree with glucocorticoid-remediable aldosteronism (GRA) and to study its molecular mechanism.

METHODSPlasma and urinary aldosterone, cortisol and plasma renin activities were dynamically tested and diagnostic therapy with dexamethasone was undergone in 3 affected subjects. Long-distance PCR as well as DNA sequencing were applied to detect the fusion gene in this pedigree.

RESULTSIn this GRA pedigree, there were 4 affected subjects who had hypertension, hypokalemia and low basic and provoked renin activity. Three patients were given dexamethasone treatment, and had a significant decrease in plasma aldosterone concentrations (PACs) (from 192 +/- 9 ng/L to 87 +/- 7ng/L, P < 0.05) after 5 days. Among them, one patient (II -3) responded quite satisfactorily to the therapy, with serum K(+) rising from baseline value of 2.5 to 2.9, 3.8 and 4.15 mEq/L on the 10th, 28th and 35th days after treatment respectively. Three weeks later, his blood pressure decreased from its original level of 146.3 +/- 1 0.7/94.6 +/- 5.3 mm Hg to 138.3 +/- 3.1/87.3 +/- 6.1 mm Hg (P < 0.05). The other 2 members (III -2 and III -4) showed modest improvement although their PACs decreased significantly. Using long-distance PCR, we found a 3.9 kb band in all 4 affected individuals, which was absent in 5 unaffected members from this pedigree or 8 patients with aldosterone-producing adenoma (APA) or idiopathic hyperaldosteronism (IHA). By DNA sequence analysis, we found that the breakpoint of "unequal crossing-over" is both within intron 2 of the 11beta-hydroxylase gene (CYP11B1) and the aldosterone synthase gene (CYP11B2).

CONCLUSIONSThe excess of mineralocorticoid in patients with GRA can be inhibited by exogenous glucocorticoids. The fusion gene resulting from unequal crossing-over between the 11beta-hydroxylase gene and the aldosterone synthase gene is the pathogenesis of this Chinese GRA pedigree.

Adrenocorticotropic Hormone ; physiology ; Adult ; Aldosterone ; blood ; Female ; Glucocorticoids ; therapeutic use ; Humans ; Hyperaldosteronism ; blood ; drug therapy ; genetics ; Mutation ; Pedigree

Primary aldosteronism (PA) is the most common form of secondary hypertension, with its main manifestations including hypertension and hypokalemia. Early identification of PA is extremely important as PA patients can easily develop cardiovascular complications such as atrial fibrillation, stroke, and myocardial infarction. The past decade has witnessed the rapid advances in the genetics of PA, which has shed new light on PA treatment. While surgery is the first choice for unilateral diseases, bilateral lesions can be treated with mineralocorticoid receptor antagonists (MRAs). The next-generation non-steroidal MRAs are under investigations. New medications including calcium channel blockers, macrophage antibiotics, and aldosterone synthase inhibitors have provided a new perspective for the medical treatment of PA.
Humans ; Hyperaldosteronism/complications* ; Adrenalectomy/adverse effects* ; Aldosterone/therapeutic use* ; Hypertension/drug therapy* ; Mineralocorticoid Receptor Antagonists/therapeutic use*

OBJECTIVETo evaluate the diagnosis and treatment of adrenal incidentalomas.

METHODSOne hundred and twenty-six patients were analyzed, in which 98 patients underwent operation.

RESULTSOf all types of the adrenal incidentalomas, 52 (41.3%) of them were adenomas and they were the most often; 43 (34.1%) of them were hypersecretory adrenal tumors, most of them were pheochromocytomas and Conn adenomas; all nonhypersecretory adrenal adenomas were under 6 cm, and all adrenal carcinomas were above 6 cm.

CONCLUSIONSIt is important to search for hypersecretory adrenal tumors and to detect malignant adrenal tumors. To nonhypersecretory adrenal adenomas, the sizes of tumors are the most important indexes in determining weather the tumors are benign or malignant and weather the tumors need to be treated with operation or not.

Adolescent ; Adrenal Gland Neoplasms ; classification ; diagnosis ; therapy ; Adrenocortical Adenoma ; diagnosis ; therapy ; Adult ; Aged ; Child ; Female ; Humans ; Hyperaldosteronism ; diagnosis ; therapy ; Male ; Middle Aged ; Pheochromocytoma ; diagnosis ; therapy

No abstract available.
Adrenal Cortex Neoplasms/*complications/diagnosis/surgery ; Adrenalectomy ; Adrenocortical Adenoma/*complications/diagnosis/surgery ; Adult ; Biopsy ; Coronary Angiography ; Drug-Eluting Stents ; Humans ; Hyperaldosteronism/diagnosis/*etiology ; Male ; Myocardial Infarction/diagnosis/*etiology/therapy ; Percutaneous Coronary Intervention/instrumentation ; Tomography, X-Ray Computed ; Treatment Outcome

BACKGROUND/AIMS: We investigated the clinical characteristics and follow-up findings of subjects with adrenal incidentalomas in a single, tertiary-care hospital in South Korea. METHODS: The study consisted of a retrospective analysis of 282 adrenal incidentaloma patients who underwent radiographic and endocrinological evaluations at Samsung Medical Center in Seoul, South Korea, between January 2004 and July 2011. RESULTS: Most (86.2%) of the subjects were found to have nonfunctioning tumors. Functioning tumors were seen in 39 patients (13.8%). Among them, 28 (9.9%) had subclinical Cushing syndrome (SCS), six (2.1%) had pheochromocytoma, and five (1.8%) had primary hyperaldosteronism. Malignant adrenal tumors were discovered in three cases: two (0.7%) were primary adrenal cancers, and one (0.4%) was a secondary metastasis from a lung cancer. Significant risk factors for functional tumors were female gender (odds ratio [OR], 3.386; 95% confidence interval [CI], 1.611 to 7.117; p = 0.0013) and a noncontrast attenuation value of > 10 Hounsfield units (OR, 2.806; 95% CI, 1.231 to 6.397; p = 0.0141). During follow-up (mean, 22.5 months) of 72 of the patients, three (4.2%) developed hormonal changes due to functional tumors. One was confirmed as pheochromocytoma by histopathology, and the others were diagnosed with SCS and followed routinely without surgical intervention. No malignant transformation was found in these patients. CONCLUSIONS: Based on these findings, initial hormonal and radiographic evaluations for adrenal incidentalomas appear to be more important than follow-up tests because functional or malignant changes are rare.
*Adrenal Gland Neoplasms/blood/diagnosis/epidemiology/therapy ; Aged ; *Cushing Syndrome/blood/diagnosis/epidemiology/therapy ; Disease Progression ; Female ; Hormones/blood ; Humans ; *Hyperaldosteronism/blood/diagnosis/epidemiology/therapy ; Logistic Models ; Male ; Middle Aged ; Odds Ratio ; *Pheochromocytoma/blood/diagnosis/epidemiology/therapy ; Predictive Value of Tests ; Prognosis ; Republic of Korea/epidemiology ; Retrospective Studies ; Risk Factors ; Tertiary Care Centers ; Time Factors ; Tomography, X-Ray Computed ; Tumor Markers, Biological/blood

Secondary hypertension occurs in a significant proportion of adult patients (~10%). In young patients, renal causes (glomerulonephritis) and coarctation of the aorta should be considered. In older patients, primary aldosteronism, obstructive sleep apnoea and renal artery stenosis are more prevalent than previously thought. Primary aldosteronism can be screened by taking morning aldosterone and renin levels, and should be considered in patients with severe, resistant or hypokalaemia-associated hypertension. Symptoms of obstructive sleep apnoea should be sought. Worsening of renal function after starting an angiotensin-converting enzyme inhibitor suggests the possibility of renal artery stenosis. Recognition, diagnosis and treatment of secondary causes of hypertension lead to good clinical outcomes and the possible reversal of end-organ damage, in addition to blood pressure control. As most patients with hypertension are managed at the primary care level, it is important for primary care physicians to recognise these conditions and refer patients appropriately.
Aldosterone ; blood ; Angiotensin-Converting Enzyme Inhibitors ; therapeutic use ; Aortic Coarctation ; complications ; diagnosis ; Blood Pressure ; Glomerulonephritis ; complications ; diagnosis ; Humans ; Hyperaldosteronism ; diagnosis ; Hypertension ; complications ; diagnosis ; therapy ; Primary Health Care ; methods ; Referral and Consultation ; Renal Artery Obstruction ; drug therapy ; Renin ; blood ; Sleep Apnea, Obstructive ; complications

Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant inheritable form of hyperaldosteronism with early onset hypertension. GRA is caused by unequal crossing-over of the steroid 11beta-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. As a result of chimeric gene duplication, aldosterone is ectopically synthesized in the adrenal zona fasciculata under the control of adrenocorticotropin. Here, we describe three cases of GRA in a Korean family. The proband-a 21-yr-old female-was incidentally found to have high blood pressure (170/108 mmHg). Her 46-yr-old father had been treated twice for cerebral hemorrhage at the ages of 29 and 39 yr. Her 15-yr-old brother had a 2-yr history of hypertension; however, he was never treated. Their laboratory test results showed normokalemia, hyporeninemia, hyperaldosteronism, and a high plasma aldosterone concentration-to-plasma renin activity ratio. Normal saline loading failed to suppress aldosterone secretion. However, dexamethasone administration effectively suppressed their plasma aldosterone concentrations. Following genetic analyses with PCR and direct sequencing to document the chimeric gene and crossover site, respectively, we identified CYP11B1/CYP11B2 and determined the breakpoint of unequal crossover to be located between intron 2 of CYP11B1 and exon 3 of CYP11B2.
Adolescent ; Aldosterone/blood ; Aldosterone Synthase/*genetics ; Asian Continental Ancestry Group/*genetics ; Dexamethasone/therapeutic use ; Family ; Female ; Glucocorticoids/*therapeutic use ; Humans ; Hyperaldosteronism/diagnosis/drug therapy/*genetics ; Hypertension/etiology ; Magnetic Resonance Angiography ; Male ; Middle Aged ; Renin/blood/metabolism ; Republic of Korea ; Sequence Analysis, DNA ; Steroid 11-beta-Hydroxylase/*genetics ; Young Adult