{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:01:47Z","timestamp":1771002107689,"version":"3.50.1"},"reference-count":109,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2006,9,1]],"date-time":"2006-09-01T00:00:00Z","timestamp":1157068800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2006,9,1]],"date-time":"2006-09-01T00:00:00Z","timestamp":1157068800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[2006,9]]},"DOI":"10.1016\/j.beem.2006.07.008","type":"journal-article","created":{"date-parts":[[2006,9,19]],"date-time":"2006-09-19T12:09:23Z","timestamp":1158667763000},"page":"401-420","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Monogenic mineralocorticoid hypertension"],"prefix":"10.1016","volume":"20","author":[{"given":"Michael","family":"Stowasser","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard D.","family":"Gordon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2006.07.008_bib1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/0140-6736(92)93225-C","article-title":"Primary aldosteronism: hypertension with a genetic basis","volume":"340","author":"Gordon","year":"1992","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2006.07.008_bib2","first-page":"2854","article-title":"Prevalence of primary aldosteronism among Asian hypertensive patients in Singapore","volume":"85","author":"Loh","year":"2000","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib3","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/S0140-6736(05)74868-6","article-title":"Potentially high prevalence of primary aldosteronism in a primary-care population","volume":"353","author":"Lim","year":"1999","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2006.07.008_bib4","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1210\/jc.2003-031337","article-title":"Increased diagnosis of primary aldosteronism, including surgically correctable forms, in centers from five continents","volume":"89","author":"Mulatero","year":"2004","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib5","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1097\/00045415-199907000-00012","article-title":"Primary aldosteronism: a common and curable form of hypertension","volume":"7","author":"Young","year":"1999","journal-title":"Cardiology in Review"},{"key":"10.1016\/j.beem.2006.07.008_bib6","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1001\/archinte.1981.00340130033011","article-title":"A screening test to identify aldosterone-producing adenoma by measuring plasma renin activity. Results in hypertensive patients","volume":"141","author":"Hiramatsu","year":"1981","journal-title":"Archives of Internal Medicine"},{"key":"10.1016\/j.beem.2006.07.008_bib7","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1111\/j.1440-1681.1994.tb02519.x","article-title":"High incidence of primary aldosteronism in 199 patients referred with hypertension","volume":"21","author":"Gordon","year":"1994","journal-title":"Clinical and Experimental Pharmacology and Physiology"},{"key":"10.1016\/j.beem.2006.07.008_bib8","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1006\/jmcc.1993.1066","article-title":"Anti-aldosterone treatment and the prevention of myocardial fibrosis in primary and secondary hyperaldosteronism","volume":"25","author":"Brilla","year":"1993","journal-title":"Journal of Molecular and Cellular Cardiology"},{"key":"10.1016\/j.beem.2006.07.008_bib9","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1161\/01.CIR.95.6.1471","article-title":"Remodeling of the left ventricle in primary aldosteronism due to Conn's adenoma","volume":"95","author":"Rossi","year":"1997","journal-title":"Circulation"},{"key":"10.1016\/j.beem.2006.07.008_bib10","doi-asserted-by":"crossref","first-page":"5070","DOI":"10.1210\/jc.2005-0681","article-title":"Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I","volume":"90","author":"Stowasser","year":"2005","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib11","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1161\/01.HYP.8.2.93","article-title":"Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate","volume":"8","author":"Gordon","year":"1986","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib12","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1097\/00041552-200409000-00012","article-title":"WNK kinases: molecular regulators of integrated epithelial ion transport","volume":"13","author":"Kahle","year":"2004","journal-title":"Current Opinion in Nephrology and Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib13","doi-asserted-by":"crossref","first-page":"3423","DOI":"10.1161\/CIRCULATIONAHA.105.555474","article-title":"Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population","volume":"112","author":"Tobin","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/j.beem.2006.07.008_bib14","first-page":"1109","article-title":"Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone","volume":"95","author":"Sutherland","year":"1966","journal-title":"Canadian Medical Association Journal"},{"key":"10.1016\/j.beem.2006.07.008_bib15","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S0960-0760(01)00097-8","article-title":"Familial hyperaldosteronism","volume":"78","author":"Stowasser","year":"2001","journal-title":"The Journal of Steroid Biochemistry and Molecular Biology"},{"key":"10.1016\/j.beem.2006.07.008_bib16","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1210\/jcem-28-12-1807","article-title":"A case of glucocorticoid-responsive hyperaldosteronism","volume":"28","author":"Miura","year":"1968","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib17","first-page":"S103","article-title":"Angiotensin-responsive aldosterone-producing adenoma masquerades as idiopathic hyperaldosteronism (IHA: adrenal hyperplasia) or low-renin essential hypertension","volume":"5","author":"Gordon","year":"1987","journal-title":"Journal of Hypertension. Supplement"},{"key":"10.1016\/j.beem.2006.07.008_bib18","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1210\/jcem-27-2-300","article-title":"A new form of congenital adrenal hyperplasia","volume":"27","author":"New","year":"1967","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib19","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1111\/j.1365-2265.1985.tb00168.x","article-title":"A new family with dexamethasone-suppressible hyperaldosteronism: aldosterone unresponsiveness to angiotensin II","volume":"22","author":"Fallo","year":"1985","journal-title":"Clinical Endocrinology"},{"key":"10.1016\/j.beem.2006.07.008_bib20","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/355262a0","article-title":"A chimaeric 11 beta-hydroxylase\/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension","volume":"355","author":"Lifton","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.beem.2006.07.008_bib21","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1161\/01.HYP.8.8.669","article-title":"Dexamethasone-suppressible hyperaldosteronism. Adrenal transition cell hyperplasia?","volume":"8","author":"Connell","year":"1986","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib22","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/j.1440-1681.1985.tb02640.x","article-title":"Hypertension corrected and aldosterone responsiveness to renin-angiotensin restored by long-term dexamethasone in glucocorticoid-suppressible hyperaldosteronism","volume":"12","author":"Woodland","year":"1985","journal-title":"Clinical and Experimental Pharmacology and Physiology"},{"key":"10.1016\/j.beem.2006.07.008_bib23","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1056\/NEJM198110223051706","article-title":"Anomalous postural aldosterone response in glucocorticoid-suppressible hyperaldosteronism","volume":"305","author":"Ganguly","year":"1981","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/j.beem.2006.07.008_bib24","first-page":"800","article-title":"Renin-aldosterone response to dexamethasone in glucocorticoid-suppressible hyperaldosteronism is altered by coexistent renal artery stenosis","volume":"77","author":"Stowasser","year":"1993","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib25","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1210\/jcem-52-2-195","article-title":"The plasma aldosterone response to angiotensin II infusion in aldosterone-producing adenoma and idiopathic hyperaldosteronism","volume":"52","author":"Wisgerhof","year":"1981","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib26","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1210\/jcem-28-7-1014","article-title":"Effects of glucocorticoid administration on aldosterone excretion and plasma renin in normal subjects, in essential hypertension and in primary aldosteronism","volume":"28","author":"Newton","year":"1968","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib27","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1210\/jcem-28-7-1006","article-title":"Effect of corticotropin on aldosterone excretion and plasma renin in normal subjects, in essential hypertension and in primary aldosteronism","volume":"28","author":"Newton","year":"1968","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib28","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1542\/peds.65.3.597","article-title":"Familial, dexamethasone-suppressible, normokalemic hyperaldosteronism","volume":"65","author":"Grim","year":"1980","journal-title":"Pediatrics"},{"key":"10.1016\/j.beem.2006.07.008_bib29","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1210\/jcem-43-6-1283","article-title":"Evidence for an unidentified ACTH-induced steroid hormone causing hypertension","volume":"43","author":"New","year":"1976","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib30","first-page":"3670","article-title":"In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes","volume":"82","author":"Stowasser","year":"1997","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib31","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.3109\/10641968209061640","article-title":"Hypersecretion of a new corticosteroid, 18-hydroxycortisol in two types of adrenocortical hypertension","volume":"4","author":"Ulick","year":"1982","journal-title":"Clinical and Experimental Hypertension. Part A, Theory and Practice"},{"key":"10.1016\/j.beem.2006.07.008_bib32","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1210\/jcem-59-5-1022","article-title":"Elevated urinary excretion of 18-oxocortisol in glucocorticoid-suppressible aldosteronism","volume":"59","author":"Gomez-Sanchez","year":"1984","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib33","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1210\/jcem-71-5-1151","article-title":"Defective fasciculata zone function as the mechanism of glucocorticoid-remediable aldosteronism","volume":"71","author":"Ulick","year":"1990","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib34","first-page":"4445","article-title":"Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia","volume":"86","author":"Hampf","year":"2001","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib35","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1097\/00004872-200018090-00002","article-title":"Primary aldosteronism: learning from the study of familial varieties","volume":"18","author":"Stowasser","year":"2000","journal-title":"Journal of Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib36","first-page":"3570","article-title":"Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism","volume":"82","author":"Litchfield","year":"1997","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib37","doi-asserted-by":"crossref","first-page":"2573","DOI":"10.1210\/jcem.83.7.4946","article-title":"Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene","volume":"83","author":"Mulatero","year":"1998","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib38","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1111\/j.1445-5994.1997.tb00999.x","article-title":"A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I","volume":"27","author":"Stowasser","year":"1997","journal-title":"Australian and New Zealand Journal of Medicine"},{"key":"10.1016\/j.beem.2006.07.008_bib39","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1006\/bbrc.1995.1225","article-title":"A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension","volume":"207","author":"Jonsson","year":"1995","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"10.1016\/j.beem.2006.07.008_bib40","first-page":"4031","article-title":"Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I","volume":"84","author":"Stowasser","year":"1999","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib41","first-page":"2160","article-title":"Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance","volume":"85","author":"Stowasser","year":"2000","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib42","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/0039-128X(94)00010-A","article-title":"Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis","volume":"60","author":"Dluhy","year":"1995","journal-title":"Steroids"},{"key":"10.1016\/j.beem.2006.07.008_bib43","doi-asserted-by":"crossref","first-page":"813","DOI":"10.7326\/0003-4819-116-10-813","article-title":"Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype","volume":"116","author":"Rich","year":"1992","journal-title":"Annals of Internal Medicine"},{"key":"10.1016\/j.beem.2006.07.008_bib44","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1042\/cs0880563","article-title":"Glucocorticoid-suppressible hyperaldosteronism: effects of crossover site and parental origin of chimaeric gene on phenotypic expression","volume":"88","author":"Jamieson","year":"1995","journal-title":"Clinical Science (London)"},{"key":"10.1016\/j.beem.2006.07.008_bib45","doi-asserted-by":"crossref","first-page":"8327","DOI":"10.1073\/pnas.89.17.8327","article-title":"Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2","volume":"89","author":"Pascoe","year":"1992","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.beem.2006.07.008_bib46","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1056\/NEJM199812173392507","article-title":"Primary aldosteronism","volume":"339","author":"Ganguly","year":"1998","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/j.beem.2006.07.008_bib47","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1210\/jcem.85.9.6834","article-title":"Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension","volume":"85","author":"Stowasser","year":"2000","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib48","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1111\/j.1440-1681.1991.tb01446.x","article-title":"Clinical and pathological diversity of primary aldosteronism, including a new familial variety","volume":"18","author":"Gordon","year":"1991","journal-title":"Clinical and Experimental Pharmacology and Physiology"},{"key":"10.1016\/j.beem.2006.07.008_bib49","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1111\/j.1440-1681.1992.tb00462.x","article-title":"Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism","volume":"19","author":"Stowasser","year":"1992","journal-title":"Clinical and Experimental Pharmacology and Physiology"},{"key":"10.1016\/j.beem.2006.07.008_bib50","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S1043-2760(03)00112-7","article-title":"Primary aldosteronism: from genesis to genetics","volume":"14","author":"Stowasser","year":"2003","journal-title":"Trends in Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib51","first-page":"159","article-title":"Genetic studies in familial aldosteronism not suppressible by dexamethasone","volume":"1","author":"Fallo","year":"2000","journal-title":"The Journal of Endocrine Genetics"},{"key":"10.1016\/j.beem.2006.07.008_bib52","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1136\/pgmj.68.806.976","article-title":"Familial Conn's syndrome","volume":"68","author":"London","year":"1992","journal-title":"Postgraduate Medical Journal"},{"key":"10.1016\/j.beem.2006.07.008_bib53","series-title":"Textbook of Hypertension","first-page":"865","article-title":"Primary aldosteronism and other forms of mineralocorticoid hypertension","author":"Gordon","year":"1994"},{"key":"10.1016\/j.beem.2006.07.008_bib54","first-page":"1633","article-title":"Genetic analysis of aldosterone synthase in patients with idiopathic hyperaldosteronism","volume":"84","author":"Takeda","year":"1999","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib55","doi-asserted-by":"crossref","first-page":"877","DOI":"10.3109\/07435809809032702","article-title":"Aldosterone synthase gene in patients suffering from hyperaldosteronism","volume":"24","author":"Hampf","year":"1998","journal-title":"Endocrine Research"},{"key":"10.1016\/j.beem.2006.07.008_bib56","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/nsb0197-32","article-title":"The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme","volume":"4","author":"Curnow","year":"1997","journal-title":"Nature Structural Biology"},{"key":"10.1016\/j.beem.2006.07.008_bib57","first-page":"4228","article-title":"Mutations in CYP11B1 gene converting 11beta-hydroxylase into an aldosterone-producing enzyme are not present in aldosterone-producing adenomas","volume":"84","author":"Pilon","year":"1999","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib58","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/j.1440-1681.1995.tb02043.x","article-title":"PCR-SSCP analysis of the angiotensin II type 1 receptor gene in patients with aldosterone-producing adenomas","volume":"22","author":"Klemm","year":"1995","journal-title":"Clinical and Experimental Pharmacology and Physiology"},{"key":"10.1016\/j.beem.2006.07.008_bib59","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/gcc.2870120114","article-title":"Allelic losses on chromosome band 11q13 in aldosterone-producing adrenal tumors","volume":"12","author":"Iida","year":"1995","journal-title":"Genes Chromosomes and Cancer"},{"key":"10.1016\/j.beem.2006.07.008_bib60","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1111\/j.1440-1681.1996.tb02790.x","article-title":"Different allelic patterns at chromosome 11q13 in paired aldosterone-producing tumours and blood DNA","volume":"23","author":"Gordon","year":"1996","journal-title":"Clinical and Experimental Pharmacology and Physiology"},{"key":"10.1016\/j.beem.2006.07.008_bib61","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1111\/j.1440-1681.1996.tb02786.x","article-title":"PCR-SSCP analysis of the p53 gene in tumours of the adrenal gland","volume":"23","author":"Ballantine","year":"1996","journal-title":"Clinical and Experimental Pharmacology and Physiology"},{"key":"10.1016\/j.beem.2006.07.008_bib62","first-page":"3214","article-title":"Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene","volume":"83","author":"Torpy","year":"1998","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib63","first-page":"1046","article-title":"Linkage analysis of familial hyperaldosteronism type II \u2013 absence of linkage to the gene encoding the angiotensin II receptor type 1","volume":"83","author":"Torpy","year":"1998","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib64","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1136\/jmg.37.11.831","article-title":"A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)","volume":"37","author":"Lafferty","year":"2000","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.beem.2006.07.008_bib65","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1111\/j.1365-2265.2004.02155.x","article-title":"Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred","volume":"61","author":"Elphinstone","year":"2004","journal-title":"Clinical Endocrinology"},{"key":"10.1016\/j.beem.2006.07.008_bib66","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/79238","article-title":"Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex","volume":"26","author":"Kirschner","year":"2000","journal-title":"Nature Genetics"},{"key":"10.1016\/j.beem.2006.07.008_bib67","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1097\/01.hjh.0000174299.66369.26","article-title":"Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity","volume":"23","author":"So","year":"2005","journal-title":"Journal of Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib68","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/00000441-200112000-00002","article-title":"Liddle syndrome: genetics and mechanisms of Na+ channel defects","volume":"322","author":"Warnock","year":"2001","journal-title":"The American Journal of the Medical Sciences"},{"key":"10.1016\/j.beem.2006.07.008_bib69","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1210\/jcem-56-2-222","article-title":"Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients","volume":"56","author":"Zachmann","year":"1983","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib70","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/S0889-8529(18)30100-2","article-title":"Steroid 11 beta-hydroxylase deficiency and related disorders","volume":"23","author":"White","year":"1994","journal-title":"Endocrinology and Metabolism Clinics of North America"},{"key":"10.1016\/j.beem.2006.07.008_bib71","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.mce.2003.09.013","article-title":"Inborn errors of adrenal steroidogenesis","volume":"211","author":"New","year":"2003","journal-title":"Molecular and Cellular Endocrinology"},{"key":"10.1016\/j.beem.2006.07.008_bib72","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/S0889-8529(18)30402-X","article-title":"Polycystic ovarian disease and congenital and late-onset adrenal hyperplasia","volume":"17","author":"New","year":"1988","journal-title":"Endocrinology and Metabolism Clinics of North America"},{"key":"10.1016\/j.beem.2006.07.008_bib73","first-page":"2896","article-title":"CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency","volume":"81","author":"Geley","year":"1996","journal-title":"TheJournal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib74","doi-asserted-by":"crossref","first-page":"3724","DOI":"10.1210\/jc.2005-0089","article-title":"Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene","volume":"90","author":"Krone","year":"2005","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib75","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/S0889-8529(18)30101-4","article-title":"Disorders of steroid 17 alpha-hydroxylase deficiency","volume":"23","author":"Kater","year":"1994","journal-title":"Endocrinology and Metabolism Clinics of North America"},{"key":"10.1016\/j.beem.2006.07.008_bib76","doi-asserted-by":"crossref","first-page":"1946","DOI":"10.1172\/JCI105499","article-title":"17-hydroxylation deficiency in man","volume":"45","author":"Biglieri","year":"1966","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/j.beem.2006.07.008_bib77","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/j.1365-2265.1993.tb02397.x","article-title":"Combined 17 alpha-hydroxylase\/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene","volume":"39","author":"Rumsby","year":"1993","journal-title":"Clinical Endocrinology"},{"key":"10.1016\/j.beem.2006.07.008_bib78","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/0960-0760(95)00029-Y","article-title":"17 alpha-Hydroxylase\/17,20-lyase defects","volume":"53","author":"Yanase","year":"1995","journal-title":"The Journal of Steroid Biochemistry and Molecular Biology"},{"key":"10.1016\/j.beem.2006.07.008_bib79","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1196\/annals.1321.014","article-title":"Familial\/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms","volume":"1024","author":"Charmandari","year":"2004","journal-title":"Annals of the New York Academy of Sciences"},{"key":"10.1016\/j.beem.2006.07.008_bib80","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/0022-4731(83)90219-4","article-title":"Primary cortisol resistance: a familial syndrome and an animal model","volume":"19","author":"Chrousos","year":"1983","journal-title":"Journal of Steroid Biochemistry"},{"key":"10.1016\/j.beem.2006.07.008_bib81","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1210\/jcem-43-5-1128","article-title":"Spontaneous hypercortisolism without Cushing's syndrome","volume":"43","author":"Vingerhoeds","year":"1976","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib82","doi-asserted-by":"crossref","first-page":"1918","DOI":"10.1172\/JCI116410","article-title":"A mutation of the glucocorticoid receptor in primary cortisol resistance","volume":"91","author":"Malchoff","year":"1993","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/j.beem.2006.07.008_bib83","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1046\/j.1365-2265.2001.01323.x","article-title":"Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance","volume":"55","author":"Ruiz","year":"2001","journal-title":"Clinical Endocrinology"},{"key":"10.1016\/j.beem.2006.07.008_bib84","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1210\/jc.2005-1893","article-title":"Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance","volume":"91","author":"Charmandari","year":"2006","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib85","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1172\/JCI113592","article-title":"Syndrome of apparent mineralocorticoid excess. A defect in the cortisol-cortisone shuttle","volume":"82","author":"Stewart","year":"1988","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/j.beem.2006.07.008_bib86","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1161\/01.HYP.0000083340.57063.35","article-title":"Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene","volume":"42","author":"Lavery","year":"2003","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib87","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1097\/00004872-199715120-00005","article-title":"Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state","volume":"15","author":"Li","year":"1997","journal-title":"Journal of Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib88","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1046\/j.1365-2265.1996.00853.x","article-title":"Urinary free cortisone and the assessment of 11 beta-hydroxysteroid dehydrogenase activity in man","volume":"45","author":"Palermo","year":"1996","journal-title":"Clinical Endocrinology"},{"key":"10.1016\/j.beem.2006.07.008_bib89","doi-asserted-by":"crossref","first-page":"12790","DOI":"10.1073\/pnas.96.22.12790","article-title":"Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess","volume":"96","author":"New","year":"1999","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.beem.2006.07.008_bib90","first-page":"2263","article-title":"A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess","volume":"80","author":"Wilson","year":"1995","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib91","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/S0140-6736(96)90211-1","article-title":"Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene","volume":"347","author":"Stewart","year":"1996","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2006.07.008_bib92","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1038\/ng0895-394","article-title":"Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase","volume":"10","author":"Mune","year":"1995","journal-title":"Nature Genetics"},{"key":"10.1016\/j.beem.2006.07.008_bib93","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1161\/01.HYP.27.6.1193","article-title":"Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype","volume":"27","author":"Mune","year":"1996","journal-title":"Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib94","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1086\/301955","article-title":"Molecular basis for hypertension in the \u2018type II variant\u2019 of apparent mineralocorticoid excess","volume":"63","author":"Li","year":"1998","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.beem.2006.07.008_bib95","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1097\/00004872-200018030-00001","article-title":"The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension","volume":"18","author":"Ferrari","year":"2000","journal-title":"Journal of Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib96","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1126\/science.289.5476.119","article-title":"Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy","volume":"289","author":"Geller","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.beem.2006.07.008_bib97","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1210\/en.2002-220708","article-title":"The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related","volume":"144","author":"Rafestin-Oblin","year":"2003","journal-title":"Endocrinology"},{"key":"10.1016\/j.beem.2006.07.008_bib98","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1097\/00041552-200109000-00018","article-title":"A mineralocorticoid receptor mutation causing human hypertension","volume":"10","author":"Geller","year":"2001","journal-title":"Current Opinion in Nephrology and Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib99","doi-asserted-by":"crossref","first-page":"2707","DOI":"10.1073\/pnas.0409663102","article-title":"A critical role of helix 3-helix 5 interaction in steroid hormone receptor function","volume":"102","author":"Zhang","year":"2005","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.beem.2006.07.008_bib100","first-page":"199","article-title":"A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion","volume":"26","author":"Liddle","year":"1963","journal-title":"Transations of the Association of American Physicians"},{"key":"10.1016\/j.beem.2006.07.008_bib101","first-page":"1071","article-title":"Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred","volume":"82","author":"Findling","year":"1997","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2006.07.008_bib102","first-page":"685","volume":"49","author":"Noblins","year":"1992","journal-title":"Archives Fran\u00e7aises de P\u00e9diatrie"},{"key":"10.1016\/j.beem.2006.07.008_bib103","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/0092-8674(94)90250-X","article-title":"Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel","volume":"79","author":"Shimkets","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.beem.2006.07.008_bib104","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/ng0995-76","article-title":"Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome","volume":"11","author":"Hansson","year":"1995","journal-title":"Nature Genetics"},{"key":"10.1016\/j.beem.2006.07.008_bib105","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1172\/JCI5713","article-title":"Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome","volume":"103","author":"Abriel","year":"1999","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/j.beem.2006.07.008_bib106","doi-asserted-by":"crossref","first-page":"2805","DOI":"10.1073\/pnas.0511184103","article-title":"Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage","volume":"103","author":"Knight","year":"2006","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.beem.2006.07.008_bib107","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/S0140-6736(97)07306-6","article-title":"Association of hypertension with T594M mutation in beta subunit of epithelial sodium channels in black people resident in London","volume":"351","author":"Baker","year":"1998","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2006.07.008_bib108","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1097\/00004872-200305000-00016","article-title":"A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension","volume":"21","author":"Rayner","year":"2003","journal-title":"Journal of Hypertension"},{"key":"10.1016\/j.beem.2006.07.008_bib109","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1097\/00004872-199917050-00007","article-title":"Polymorphisms of the gamma subunit of the epithelial Na+ channel in essential hypertension","volume":"17","author":"Persu","year":"1999","journal-title":"Journal of Hypertension"}],"container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X06000558?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X06000558?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:38:39Z","timestamp":1761496719000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X06000558"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9]]},"references-count":109,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["S1521690X06000558"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2006.07.008","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2006,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Monogenic mineralocorticoid hypertension","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2006.07.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}