{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:25:16Z","timestamp":1786119916337,"version":"build-2736575974"},"reference-count":103,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,6]]},"DOI":"10.1097\/med.0b013e3283469444","type":"journal-article","created":{"date-parts":[[2011,4,14]],"date-time":"2011-04-14T03:57:38Z","timestamp":1302753458000},"page":"177-185","source":"Crossref","is-referenced-by-count":30,"title":["Inherited forms of mineralocorticoid hypertension"],"prefix":"10.1097","volume":"18","author":[{"given":"Zaki","family":"Hassan-Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul M","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-5-20211004","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1210\/er.2003-0031","article-title":"11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response","volume":"25","author":"Tomlinson","year":"2004","journal-title":"Endocr Rev"},{"key":"R2-5-20211004","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1210\/jcem-44-5-924","article-title":"Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension","volume":"44","author":"New","year":"1977","journal-title":"J Clin Endocrinol Metab"},{"key":"R3-5-20211004","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1590\/S0004-27302004000500015","article-title":"Apparent mineralocorticoid excess syndrome: an overview","volume":"48","author":"Palermo","year":"2004","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"R4-5-20211004","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1111\/j.1365-2265.1985.tb00160.x","article-title":"Congenital 11 beta-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticosteroid metabolite profiles of four patients and their families","volume":"22","author":"Shackleton","year":"1985","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R5-5-20211004","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1210\/jcem-63-3-550","article-title":"The syndrome of apparent mineralocorticoid excess: its association with 11 beta-dehydrogenase and 5 beta-reductase deficiency and some consequences for corticosteroid metabolism","volume":"63","author":"Monder","year":"1986","journal-title":"J Clin Endocrinol Metab"},{"key":"R6-5-20211004","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":"R7-5-20211004","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0039-128X(96)00164-X","article-title":"Molecular analysis of 11 beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess","volume":"62","author":"White","year":"1997","journal-title":"Steroids"},{"key":"R8-5-20211004","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1677\/joe.1.06019","article-title":"11beta-hydroxysteroid dehydrogenase and the prereceptor regulation of corticosteroid hormone action","volume":"186","author":"Draper","year":"2005","journal-title":"J Endocrinol"},{"key":"R9-5-20211004","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/0960-0760(95)00196-4","article-title":"Analysis of the human gene encoding the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase","volume":"55","author":"Agarwal","year":"1995","journal-title":"J Steroid Biochem Mol Biol"},{"key":"R10-5-20211004","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.mce.2003.10.019","article-title":"Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population","volume":"217","author":"Quinkler","year":"2004","journal-title":"Mol Cell Endocrinol"},{"key":"R11-5-20211004","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":"R12-5-20211004","doi-asserted-by":"crossref","first-page":"2501","DOI":"10.1210\/jc.2002-021909","article-title":"Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess","volume":"88","author":"Carvajal","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"R13-5-20211004","first-page":"2244","article-title":"Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess","volume":"83","author":"Dave-Sharma","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"R14-5-20211004","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":"J Hypertens"},{"key":"R15-5-20211004","first-page":"4054","article-title":"A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess","volume":"82","author":"Kitanaka","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"R16-5-20211004","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/0303-7207(96)03787-2","article-title":"Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess","volume":"119","author":"Ferrari","year":"1996","journal-title":"Mol Cell Endocrinol"},{"key":"R17-5-20211004","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1046\/j.1365-2265.1996.677500.x","article-title":"Apparent mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase deficiency: a possible cause of intrauterine growth retardation","volume":"44","author":"Kitanaka","year":"1996","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R18-5-20211004","first-page":"3145","article-title":"Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess","volume":"80","author":"Wilson","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"R19-5-20211004","first-page":"1","article-title":"The prismatic case of apparent mineralocorticoid excess","volume":"79","author":"New","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"key":"R20-5-20211004","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1210\/jcem-49-5-757","article-title":"A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol","volume":"49","author":"Ulick","year":"1979","journal-title":"J Clin Endocrinol Metab"},{"key":"R21-5-20211004","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1590\/S0004-27302008000800012","article-title":"Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene","volume":"52","author":"Coeli","year":"2008","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"R22-5-20211004","doi-asserted-by":"crossref","first-page":"3176","DOI":"10.1681\/ASN.2006060570","article-title":"Apparent mineralocorticoid excess: report of six new cases and extensive personal experience","volume":"17","author":"Morineau","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"R23-5-20211004","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/S0140-6736(87)91014-2","article-title":"Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age","volume":"2","author":"Stewart","year":"1987","journal-title":"Lancet"},{"key":"R25-5-20211004","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1056\/NEJM199812103392414","article-title":"Cure of apparent mineralocorticoid excess by kidney transplantation","volume":"339","author":"Palermo","year":"1998","journal-title":"N Engl J Med"},{"key":"R26-5-20211004","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":"Can Med Assoc J"},{"key":"R27-5-20211004","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":"Ann Intern Med"},{"key":"R28-5-20211004","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1172\/JCI118279","article-title":"Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree","volume":"96","author":"Pascoe","year":"1995","journal-title":"J Clin Invest"},{"key":"R29-5-20211004","doi-asserted-by":"crossref","first-page":"4328","DOI":"10.1210\/jcem.83.12.5309","article-title":"Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism","volume":"83","author":"MacConnachie","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"R30-5-20211004","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1291\/hypres.24.589","article-title":"Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction","volume":"24","author":"Yokota","year":"2001","journal-title":"Hypertens Res"},{"key":"R31-5-20211004","first-page":"979","article-title":"Clinical and gene mutation studies on a Chinese pedigree with glucocorticoid-remediable aldosteronism","volume":"115","author":"Ding","year":"2002","journal-title":"Chin Med J (Engl)"},{"key":"R32-5-20211004","doi-asserted-by":"crossref","first-page":"3187","DOI":"10.1210\/jcem.87.7.8647","article-title":"Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation Italian pedigree","volume":"87","author":"Mulatero","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"R33-5-20211004","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1093\/ndt\/gfl706","article-title":"A German family with glucocorticoid-remediable aldosteronism","volume":"22","author":"Vonend","year":"2007","journal-title":"Nephrol Dial Transplant"},{"key":"R34-5-20211004","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.3346\/jkms.2010.25.9.1379","article-title":"Genetic analyses of the chimeric CYP11B1\/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism","volume":"25","author":"Lee","year":"2010","journal-title":"J Korean Med Sci"},{"key":"R35-5-20211004","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1016\/S0021-9258(18)34909-3","article-title":"Isolation and identification of 18-hydroxycortisol from the urine of patients with primary aldosteronism","volume":"257","author":"Chu","year":"1982","journal-title":"J Biol Chem"},{"key":"R36-5-20211004","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":"J Clin Endocrinol Metab"},{"key":"R37-5-20211004","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":"R38-5-20211004","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":"Biochem Biophys Res Commun"},{"key":"R39-5-20211004","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/sj.jhh.1001636","article-title":"Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism","volume":"18","author":"Fallo","year":"2004","journal-title":"J Hum Hypertens"},{"key":"R40-5-20211004","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/sj.jhh.1001152","article-title":"Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population?","volume":"15","author":"Gates","year":"2001","journal-title":"J Hum Hypertens"},{"key":"R41-5-20211004","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":"J Clin Endocrinol Metab"},{"key":"R42-5-20211004","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/sj.jhh.1001821","article-title":"Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting","volume":"19","author":"Pizzolo","year":"2005","journal-title":"J Hum Hypertens"},{"issue":"1","key":"R43-5-20211004","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1161\/01.HYP.31.1.445","article-title":"Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism","volume":"31","author":"Litchfield","year":"1998","journal-title":"Hypertension"},{"key":"R44-5-20211004","doi-asserted-by":"crossref","first-page":"4341","DOI":"10.1210\/jcem.84.12.6256","article-title":"Glucocorticoid-remediable aldosteronism","volume":"84","author":"Dluhy","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"R45-5-20211004","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":"Clin Exp Pharmacol Physiol"},{"key":"R46-5-20211004","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":"J Clin Endocrinol Metab"},{"key":"R47-5-20211004","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1097\/HJH.0b013e3283028352","article-title":"Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families","volume":"26","author":"Sukor","year":"2008","journal-title":"J Hypertens"},{"key":"R48-5-20211004","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":"J Hypertens"},{"key":"R49-5-20211004","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/j.1440-1681.2008.04882.x","article-title":"Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II","volume":"35","author":"Jeske","year":"2008","journal-title":"Clin Exp Pharmacol Physiol"},{"key":"R51-5-20211004","first-page":"199","article-title":"A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion","volume":"76","author":"Liddle","year":"1963","journal-title":"Trans Assoc Am Phys"},{"key":"R52-5-20211004","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":"R53-5-20211004","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":"Nat Genet"},{"key":"R54-5-20211004","first-page":"807","article-title":"Liddle syndrome","volume":"54","author":"Tamura","year":"1996","journal-title":"Nippon Rinsho"},{"key":"R55-5-20211004","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1385\/ENDO:29:3:385","article-title":"Mutation analysis of SCNN1B in a family with Liddle's syndrome","volume":"29","author":"Wang","year":"2006","journal-title":"Endocrine"},{"key":"R56-5-20211004","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1097\/HJH.0b013e3282f85dfe","article-title":"Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit","volume":"26","author":"Rossi","year":"2008","journal-title":"J Hypertens"},{"key":"R57-5-20211004","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1515\/JPEM.2009.22.1.85","article-title":"A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome","volume":"22","author":"Sawathiparnich","year":"2009","journal-title":"J Pediatr Endocrinol Metab"},{"key":"R58-5-20211004","first-page":"132","article-title":"Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G [in Chinese]","volume":"27","author":"Shi","year":"2010","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"R59-5-20211004","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1111\/j.1365-2265.2007.02967.x","article-title":"A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome","volume":"67","author":"Wang","year":"2007","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R60-5-20211004","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1016\/0092-8674(95)90212-0","article-title":"Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel","volume":"83","author":"Snyder","year":"1995","journal-title":"Cell"},{"key":"R61-5-20211004","doi-asserted-by":"crossref","first-page":"23527","DOI":"10.1074\/jbc.R109.025049","article-title":"Epithelial Na+ channel (ENaC), hormones, and hypertension","volume":"285","author":"Bubien","year":"2010","journal-title":"J Biol Chem"},{"key":"R62-5-20211004","doi-asserted-by":"crossref","first-page":"305","DOI":"10.5694\/j.1326-5377.1964.tb115766.x","article-title":"Hypertension and hyperpotassaemia without renal disease in a young male","volume":"2","author":"Paver","year":"1964","journal-title":"Med J Aust"},{"key":"R63-5-20211004","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1111\/imj.1970.19.4.287","article-title":"Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction","volume":"19","author":"Gordon","year":"1970","journal-title":"Australas Ann Med"},{"key":"R64-5-20211004","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/ki.1973.38","article-title":"Short stature, hyperkalemia and acidosis: a defect in renal transport of potassium","volume":"3","author":"Spitzer","year":"1973","journal-title":"Kidney Int"},{"key":"R65-5-20211004","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0022-3476(74)80115-0","article-title":"Hyperkalemia acidosis, and short stature associated with a defect in renal potassium excretion","volume":"85","author":"Weinstein","year":"1974","journal-title":"J Pediatr"},{"key":"R66-5-20211004","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1038\/ki.1981.72","article-title":"Mineralocorticoid-resistant renal hyperkalaemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption","volume":"19","author":"Schambelan","year":"1981","journal-title":"Kidney Int"},{"key":"R67-5-20211004","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1056\/NEJM199102143240707","article-title":"Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism","volume":"324","author":"Take","year":"1991","journal-title":"N Engl J Med"},{"key":"R68-5-20211004","doi-asserted-by":"crossref","first-page":"3248","DOI":"10.1210\/jcem.87.7.8449","article-title":"Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density","volume":"87","author":"Mayan","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"R69-5-20211004","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1126\/science.1062844","article-title":"Human hypertension caused by mutations in WNK kinases","volume":"293","author":"Wilson","year":"2001","journal-title":"Science"},{"key":"R70-5-20211004","doi-asserted-by":"crossref","first-page":"F1369","DOI":"10.1152\/ajprenal.00468.2005","article-title":"Regulation of the expression of the Na\/Cl cotransporter by WNK4 and WNK1: evidence that accelerated dynamin-dependent endocytosis is not involved","volume":"291","author":"Golbang","year":"2006","journal-title":"Am J Physiol Renal Physiol"},{"key":"R71-5-20211004","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1152\/physrev.00017.2010","article-title":"The WNKs: atypical protein kinases with pleiotropic actions","volume":"91","author":"McCormick","year":"2011","journal-title":"Physiol Rev"},{"key":"R72-5-20211004","doi-asserted-by":"crossref","first-page":"42685","DOI":"10.1074\/jbc.M510042200","article-title":"WNK1 regulates phosphorylation of cation\u2013chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1","volume":"280","author":"Moriguchi","year":"2005","journal-title":"J Biol Chem"},{"key":"R73-5-20211004","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/966","article-title":"Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I","volume":"19","author":"Geller","year":"1998","journal-title":"Nat Genet"},{"key":"R74-5-20211004","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":"J Clin Endocrinol Metab"},{"key":"R75-5-20211004","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1210\/jc.2008-0040","article-title":"Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder","volume":"93","author":"Charmandari","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"R76-5-20211004","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1210\/jc.2009-1003","article-title":"Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1)","volume":"95","author":"McMahon","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"R77-5-20211004","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1210\/jc.2009-2463","article-title":"A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain","volume":"95","author":"Nader","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"R78-5-20211004","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1172\/JCI115046","article-title":"Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance","volume":"87","author":"Hurley","year":"1991","journal-title":"J Clin Invest"},{"key":"R79-5-20211004","doi-asserted-by":"crossref","first-page":"E490","DOI":"10.1210\/jc.2010-0705","article-title":"Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation","volume":"95","author":"Trebble","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"R80-5-20211004","first-page":"683","article-title":"Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene","volume":"76","author":"Karl","year":"1993","journal-title":"J Clin Endocrinol Metab"},{"key":"R81-5-20211004","doi-asserted-by":"crossref","first-page":"e13563","DOI":"10.1371\/journal.pone.0013563","article-title":"Familial glucocorticoid receptor haploinsufficiency by nonsense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess","volume":"5","author":"Bouligand","year":"2010","journal-title":"PLoS One"},{"key":"R82-5-20211004","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1159\/000245930","article-title":"Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: insights from two novel CYP11B1 mutations (p.M92X, p R453Q)","volume":"72","author":"Krone","year":"2009","journal-title":"Horm Res"},{"key":"R83-5-20211004","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1749-6632.2002.tb04420.x","article-title":"Hypertension in congenital adrenal hyperplasia and apparent mineralocorticoid excess","volume":"970","author":"New","year":"2002","journal-title":"Ann N Y Acad Sci"},{"key":"R84-5-20211004","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1161\/01.HYP.28.6.927","article-title":"Inherited forms of mineralocorticoid hypertension","volume":"28","author":"White","year":"1996","journal-title":"Hypertension"},{"key":"R85-5-20211004","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1172\/JCI115182","article-title":"A mutation in CYP11B1 (Arg-448 \u2013 His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin","volume":"87","author":"White","year":"1991","journal-title":"J Clin Invest"},{"key":"R86-5-20211004","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s12519-008-0016-8","article-title":"Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency","volume":"4","author":"Zhao","year":"2008","journal-title":"World J Pediatr"},{"key":"R87-5-20211004","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1159\/000137659","article-title":"A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46 XX individuals with 11-beta-hydroxylase deficiency","volume":"70","author":"Riedl","year":"2008","journal-title":"Horm Res"},{"key":"R88-5-20211004","doi-asserted-by":"crossref","first-page":"3481","DOI":"10.1210\/jc.2008-2521","article-title":"Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients","volume":"94","author":"Soardi","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"R89-5-20211004","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.beem.2008.10.014","article-title":"Genetics of congenital adrenal hyperplasia","volume":"23","author":"Krone","year":"2009","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"R90-5-20211004","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1007\/s00431-009-1110-1","article-title":"Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other","volume":"169","author":"Dumic","year":"2010","journal-title":"Eur J Pediatr"},{"key":"R91-5-20211004","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1210\/jc.2009-0651","article-title":"Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency","volume":"95","author":"Parajes","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"R92-5-20211004","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1159\/000281417","article-title":"Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency in a moroccan population","volume":"74","author":"Chabraoui","year":"2010","journal-title":"Horm Res Paediatr"},{"key":"R93-5-20211004","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1210\/jc.2005-1145","article-title":"Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews","volume":"90","author":"Paperna","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"R94-5-20211004","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1210\/mend-2-6-564","article-title":"Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase\/17,20 lyase deficiency","volume":"2","author":"Kagimoto","year":"1988","journal-title":"Mol Endocrinol"},{"key":"R95-5-20211004","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/BF00207050","article-title":"Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency","volume":"89","author":"Imai","year":"1992","journal-title":"Hum Genet"},{"key":"R96-5-20211004","doi-asserted-by":"crossref","first-page":"3058","DOI":"10.1210\/jc.2009-0172","article-title":"Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene","volume":"94","author":"Dhir","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"R97-5-20211004","doi-asserted-by":"crossref","first-page":"R169","DOI":"10.1093\/hmg\/ddh078","article-title":"Genetics of essential hypertension","volume":"13","author":"Mein","year":"2004","journal-title":"Hum Mol Genet"},{"key":"R98-5-20211004","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1161\/HYPERTENSIONAHA.110.156190","article-title":"Genome-wide association studies will unlock the genetic basis of hypertension: con side of the argument","volume":"56","author":"Kurtz","year":"2010","journal-title":"Hypertension"},{"key":"R99-5-20211004","doi-asserted-by":"crossref","first-page":"2384","DOI":"10.1210\/jc.2003-030138","article-title":"Hypertension and the cortisol\u2013cortisone shuttle","volume":"88","author":"Quinkler","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"R100-5-20211004","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.bbadis.2009.10.017","article-title":"The role of 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension","volume":"1802","author":"Ferrari","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"R101-5-20211004","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1016\/j.amjhyper.2005.02.020","article-title":"Analysis of the 11beta-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) in human essential hypertension","volume":"18","author":"Mariniello","year":"2005","journal-title":"Am J Hypertens"},{"key":"R102-5-20211004","first-page":"4979","article-title":"Reduced placental 11beta-hydroxysteroid dehydrogenase type 2 mRNA levels in human pregnancies complicated by intrauterine growth restriction: an analysis of possible mechanisms","volume":"86","author":"McTernan","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"R103-5-20211004","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1161\/01.HYP.31.1.552","article-title":"Trends in hypertension prevalence, treatment, and control: in a well defined older population","volume":"31","author":"Barker","year":"1998","journal-title":"Hypertension"},{"key":"R104-5-20211004","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/ajh.2009.39","article-title":"Association of a mineralocorticoid receptor gene polymorphism with hypertension in a Spanish population","volume":"22","author":"Martinez","year":"2009","journal-title":"Am J Hypertens"},{"key":"R105-5-20211004","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1161\/01.HYP.34.6.1186","article-title":"Association and linkage analyses of glucocorticoid receptor gene markers in essential hypertension","volume":"34","author":"Lin","year":"1999","journal-title":"Hypertension"}],"container-title":["Current Opinion in Endocrinology, Diabetes &amp; Obesity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01266029-201106000-00005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T19:29:29Z","timestamp":1786044569000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01266029-201106000-00005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6]]},"references-count":103,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.1097\/med.0b013e3283469444","relation":{},"ISSN":["1752-296X"],"issn-type":[{"value":"1752-296X","type":"print"}],"subject":[],"published":{"date-parts":[[2011,6]]}}}