{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T04:01:42Z","timestamp":1780718502094,"version":"3.54.1"},"reference-count":101,"publisher":"Japan Endocrine Society","issue":"6","funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["23FC1041"],"award-info":[{"award-number":["23FC1041"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2026]]},"DOI":"10.1507\/endocrj.ej25-0630","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T22:09:47Z","timestamp":1774562987000},"page":"751-763","source":"Crossref","is-referenced-by-count":0,"title":["Congenital aldosterone deficiency and its resistance"],"prefix":"10.1507","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-0964-6205","authenticated-orcid":false,"given":"Toshihiro","family":"Tajima","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Jichi Medical University, Tochigi 329-0498, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0457-6173","authenticated-orcid":false,"given":"Naoko","family":"Amano","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Tokyo Metropolitan Children\u2019s Medical Center, Tokyo 183-8561, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7360-2465","authenticated-orcid":false,"given":"Tomohiro","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Tokyo Metropolitan Children\u2019s Medical Center, Tokyo 183-8561, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5947-8621","authenticated-orcid":false,"given":"Michio","family":"Otuski","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0396-8645","authenticated-orcid":false,"given":"Takuyuki","family":"Katabami","sequence":"additional","affiliation":[{"name":"Department of Metabolism and Endocrinology, St. Marianna University Yokohama Seibu Hospital, Kanagawa 241-0811, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2505-5932","authenticated-orcid":false,"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0143-3989","authenticated-orcid":false,"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8412-761X","authenticated-orcid":false,"given":"Tokuo","family":"Mukai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Japanese Red Cross Asahikawa Hospital, Hokkaido 070-0061, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5100-3135","authenticated-orcid":false,"given":"Yuichi","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, Oita 879-5593, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6506-4820","authenticated-orcid":false,"given":"Hirotaka","family":"Shibata","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, Oita 879-5593, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1 White PC, Curnow KM, Pascoe L (1994) Disorders of steroid 11 beta-hydroxylase isozymes. Endocr Rev 15: 421\u2013438.","DOI":"10.1210\/edrv-15-4-421"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 White PC (2004) Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol 217: 81\u201387.","DOI":"10.1016\/j.mce.2003.10.013"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3 Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, et al. (2023) Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia. Rev Endocr Metab Disord 24: 345\u2013363.","DOI":"10.1007\/s11154-023-09784-7"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Kondo E, Nakamura A, Homma K, Hasegawa T, Yamaguchi T, et al. (2013) Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1. Endocr J 60: 51\u201355.","DOI":"10.1507\/endocrj.EJ12-0248"},{"key":"5","unstructured":"5 Diagnostic criteria and severity classification for aldosterone synthase deficiency. https:\/\/www.j-endo.jp\/uploads\/files\/edu\/aldo202504.pdf accessed on February 2, 2026 (in Japanese)."},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Rossi GM, Regolisti G, Peyronel F, Fiaccadori E (2020) Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery. J Nephrol 33: 447\u2013466.","DOI":"10.1007\/s40620-020-00700-9"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Pearce D, Manis AD, Nesterov V, Korbmacher C (2022) Regulation of distal tubule sodium transport: mechanisms and roles in homeostasis and pathophysiology. Pflugers Arch 474: 869\u2013884.","DOI":"10.1007\/s00424-022-02732-5"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 White PC (2018) Alterations of cortisol metabolism in human disorders. Horm Res Paediatr 89: 320\u2013330.","DOI":"10.1159\/000485508"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9 Welling PA (2016) Roles and regulation of renal K channels. Annu Rev Physiol 78: 415\u2013435.","DOI":"10.1146\/annurev-physiol-021115-105423"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Chen Y, Yu X, Yan Z, Zhang S, Zhang J, et al. (2023) Role of epithelial sodium channel-related inflammation in human diseases. Front Immunol 14: 1178410.","DOI":"10.3389\/fimmu.2023.1178410"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11 Kleyman TR, Kashlan OB, Hughey RP (2018) Epithelial Na(+) channel regulation by extracellular and intracellular factors. Annu Rev Physiol 80: 263\u2013281.","DOI":"10.1146\/annurev-physiol-021317-121143"},{"key":"12","doi-asserted-by":"publisher","unstructured":"12 Snyder PM (2005) Minireview: regulation of epithelial Na+ channel trafficking. Endocrinology 146: 5079\u20135085.","DOI":"10.1210\/en.2005-0894"},{"key":"13","doi-asserted-by":"publisher","unstructured":"13 Hanukoglu I, Hanukoglu A (2016) Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. Gene 579: 95\u2013132.","DOI":"10.1016\/j.gene.2015.12.061"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Staub O, Gautschi I, Ishikawa T, Breitschopf K, Ciechanover A, et al. (1997) Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination. EMBO J 16: 6325\u20136336.","DOI":"10.1093\/emboj\/16.21.6325"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Debonneville C, Flores SY, Kamynina E, Plant PJ, Tauxe C, et al. (2001) Phosphorylation of Nedd4-2 by Sgk1 regulates epithelial Na(+) channel cell surface expression. EMBO J 20: 7052\u20137059.","DOI":"10.1093\/emboj\/20.24.7052"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Persaud A, Jiang C, Liu Z, Kefalas G, Demian WL, et al. (2022) Elevated intracellular Na(+) and osmolarity stimulate catalytic activity of the ubiquitin ligase Nedd4-2. Proc Natl Acad Sci U S A 119: e2122495119.","DOI":"10.1073\/pnas.2122495119"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 Escoubet B, Coureau C, Bonvalet JP, Farman N (1997) Noncoordinate regulation of epithelial Na channel and Na pump subunit mRNAs in kidney and colon by aldosterone. Am J Physiol 272: C1482\u2013C1491.","DOI":"10.1152\/ajpcell.1997.272.5.C1482"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18 Tsilosani A, Gao C, Zhang W (2022) Aldosterone-regulated sodium transport and blood pressure. Front Physiol 13: 770375.","DOI":"10.3389\/fphys.2022.770375"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, et al. (2018) Liddle syndrome: review of the literature and description of a new case. Int J Mol Sci 19: 812.","DOI":"10.3390\/ijms19030812"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 Ring AM, Cheng SX, Leng Q, Kahle KT, Rinehart J, et al. (2007) WNK4 regulates activity of the epithelial Na+ channel <i>in vitro<\/i> and <i>in vivo<\/i>. Proc Natl Acad Sci U S A 104: 4020\u20134024.","DOI":"10.1073\/pnas.0611727104"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Rashmi P, Colussi G, Ng M, Wu X, Kidwai A, et al. (2017) Glucocorticoid-induced leucine zipper protein regulates sodium and potassium balance in the distal nephron. Kidney Int 91: 1159\u20131177.","DOI":"10.1016\/j.kint.2016.10.038"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22 Pascoe L, Curnow KM, Slutsker L, R\u00f6sler A, White PC (1992) Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc Natl Acad Sci U S A 89: 4996\u20135000.","DOI":"10.1073\/pnas.89.11.4996"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23 Merakou C, Fylaktou I, Sertedaki A, Dracopoulou M, Voutetakis A, et al. (2021) Molecular analysis of the CYP11B2 gene in 62 patients with hypoaldosteronism due to aldosterone synthase deficiency. J Clin Endocrinol Metab 106: e182\u2013e191.","DOI":"10.1210\/clinem\/dgaa765"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24 Turan H, Da\u011fdeviren \u00c7ak\u0131r A, \u00d6zer Y, Tar\u00e7\u0131n G, \u00d6zcabi B, et al. (2021) Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: novel mutations in CYP11B2. J Clin Res Pediatr Endocrinol 13: 232\u2013238.","DOI":"10.4274\/jcrpe.galenos.2020.2019.0216"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Mitsuuchi Y, Kawamoto T, Naiki Y, Miyahara K, Toda K, et al. (1992) Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. Biochem Biophys Res Commun 182: 974\u2013979.","DOI":"10.1016\/0006-291X(92)91827-D"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton DH, et al. (1993) Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem Biophys Res Commun 190: 864\u2013869.","DOI":"10.1006\/bbrc.1993.1128"},{"key":"27","unstructured":"27 Zhang G, Rodriguez H, Fardella CE, Harris DA, Miller WL (1995) Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency. Am J Hum Genet 57: 1037\u20131043."},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 Geley S, J\u00f6hrer K, Peter M, Denner K, Bernhardt R, et al. (1995) Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. J Clin Endocrinol Metab 80: 424\u2013429.","DOI":"10.1210\/jcem.80.2.7852500"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Fardella CE, Hum DW, Rodriguez H, Zhang G, Barry FL, et al. (1996) Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency. J Clin Endocrinol Metab 81: 321\u2013326.","DOI":"10.1210\/jc.81.1.321"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30 Peter M, Fawaz L, Drop SL, Visser HK, Sippell WG (1997) Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964\u20131997. J Clin Endocrinol Metab 82: 3525\u20133528.","DOI":"10.1210\/jc.82.11.3525"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31 Nomoto S, Massa G, Mitani F, Ishimura Y, Miyahara K, et al. (1997) CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). Biochem Biophys Res Commun 234: 382\u2013385.","DOI":"10.1006\/bbrc.1997.6651"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 Peter M, B\u00fcnger K, Drop SL, Sippell WG (1998) Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies. Eur J Endocrinol 139: 96\u2013100.","DOI":"10.1530\/eje.0.1390096"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, et al. (1998) Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. J Clin Endocrinol Metab 83: 4156\u20134161.","DOI":"10.1210\/jc.83.11.4156"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34 Peter M, Nikischin W, Heinz-Erian P, Fussenegger W, Kapelari K, et al. (1998) Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II. Horm Res 50: 222\u2013225.","DOI":"10.1159\/000023278"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35 Peter M, B\u00fcnger K, S\u00f3lyom J, Sippell WG (1998) Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. Eur J Pediatr 157: 378\u2013381.","DOI":"10.1007\/s004310050833"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36 L\u00f3pez-Siguero JP, Garc\u00eda-Garc\u00eda E, Peter M, Sippell WG (1999) Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases. Horm Res 52: 298\u2013300.","DOI":"10.1159\/000023500"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37 Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F (2001) Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene. Eur J Endocrinol 144: 59\u201362.","DOI":"10.1530\/eje.0.1440059"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38 Kayes-Wandover KM, Schindler RE, Taylor HC, White PC (2001) Type 1 aldosterone synthase deficiency presenting in a middle-aged man. J Clin Endocrinol Metab 86: 1008\u20131012.","DOI":"10.1210\/jc.86.3.1008"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39 Dunlop FM, Crock PA, Montalto J, Funder JW, Curnow KM (2003) A compound heterozygote case of type II aldosterone synthase deficiency. J Clin Endocrinol Metab 88: 2518\u20132526.","DOI":"10.1210\/jc.2003-030353"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40 Williams TA, Mulatero P, Bosio M, Lewicka S, Palermo M, et al. (2004) A particular phenotype in a girl with aldosterone synthase deficiency. J Clin Endocrinol Metab 89: 3168\u20133172.","DOI":"10.1210\/jc.2003-031912"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41 Leshinsky-Silver E, Landau Z, Unlubay S, Bistrizer T, Zung A, et al. (2006) Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. Horm Res 66: 73\u201378.","DOI":"10.1159\/000093583"},{"key":"42","doi-asserted-by":"crossref","unstructured":"42 Nguyen HH, Hannemann F, Hartmann MF, Wudy SA, Bernhardt R (2008) Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene. Mol Genet Metab 93: 458\u2013467.","DOI":"10.1016\/j.ymgme.2007.11.009"},{"key":"43","doi-asserted-by":"crossref","unstructured":"43 L\u00f8v\u00e5s K, McFarlane I, Nguyen HH, Curran S, Schwabe J, et al. (2009) A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency. J Clin Endocrinol Metab 94: 914\u2013919.","DOI":"10.1210\/jc.2008-1524"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44 Nguyen HH, Hannemann F, Hartmann MF, Malunowicz EM, Wudy SA, et al. (2010) Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses. Mol Genet Metab 100: 357\u2013364.","DOI":"10.1016\/j.ymgme.2010.04.016"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45 Jessen CL, Christensen JH, Birkebaek NH, Rittig S (2012) Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II. Acta Paediatr 101: e519\u2013e525.","DOI":"10.1111\/j.1651-2227.2012.02823.x"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46 Klomchan T, Supornsilchai V, Wacharasindhu S, Shotelersuk V, Sahakitrungruang T (2012) Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency. Eur J Pediatr 171: 1559\u20131562.","DOI":"10.1007\/s00431-012-1792-7"},{"key":"47","unstructured":"47 Gucev Z, Tasic V, Pop-Jordanova N, Riepe FG (2012) Aldosterone synthase deficiency type II with hypospadias. Indian Pediatr 49: 318\u2013320."},{"key":"48","doi-asserted-by":"crossref","unstructured":"48 Hui E, Yeung MC, Cheung PT, Kwan E, Low L, et al. (2014) The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene. BMC Endocr Disord 14: 29.","DOI":"10.1186\/1472-6823-14-29"},{"key":"49","doi-asserted-by":"crossref","unstructured":"49 \u00dcstyol A, Atabek ME, Taylor N, Yeung MC, Chan AO (2016) Corticosterone methyl oxidase deficiency type 1 with normokalemia in an infant. J Clin Res Pediatr Endocrinol 8: 356\u2013359.","DOI":"10.4274\/jcrpe.2824"},{"key":"50","doi-asserted-by":"crossref","unstructured":"50 Li N, Li J, Ding Y, Yu T, Shen Y, et al. (2016) Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency. Mol Med Rep 13: 3127\u20133132.","DOI":"10.3892\/mmr.2016.4906"},{"key":"51","doi-asserted-by":"crossref","unstructured":"51 Turan I, Kotan LD, Tastan M, Gurbuz F, Topaloglu AK, et al. (2018) Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance. Clin Endocrinol (Oxf) 88: 799\u2013805.","DOI":"10.1111\/cen.13603"},{"key":"52","doi-asserted-by":"publisher","unstructured":"52 Miao H, Yu Z, Lu L, Zhu H, Auchus RJ, et al. (2019) Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review. Steroids 150: 108448.","DOI":"10.1016\/j.steroids.2019.108448"},{"key":"53","doi-asserted-by":"crossref","unstructured":"53 Mart\u00edn-Rivada \u00c1, Argente J, Martos-Moreno G (2020) Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism. J Pediatr Endocrinol Metab 33: 1501\u20131505.","DOI":"10.1515\/jpem-2020-0239"},{"key":"54","unstructured":"54 Yang H, Chen Q, Zhang L, Cui Y, Wei H (2021) Clinical and genetic analysis of an infant with aldosterone synthase deficiency. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 38: 865\u2013868 (in Chinese)."},{"key":"55","doi-asserted-by":"crossref","unstructured":"55 Faingelernt Y, Hershkovitz E, Abu-Libdeh B, Abedrabbo A, Abu-Rmaileh Amro S, et al. (2021) Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity. Am J Med Genet A 185: 1033\u20131038.","DOI":"10.1002\/ajmg.a.62056"},{"key":"56","doi-asserted-by":"crossref","unstructured":"56 Gurpinar Tosun B, Kendir Demirkol Y, Seven Menevse T, Kaygusuz SB, Ozbek MN, et al. (2022) Catch-up growth and discontinuation of fludrocortisone treatment in aldosterone synthase deficiency. J Clin Endocrinol Metab 107: e106\u2013e117.","DOI":"10.1210\/clinem\/dgab619"},{"key":"57","doi-asserted-by":"crossref","unstructured":"57 Koyama S, Tsuboi T, Naganuma J, Arisaka O, Yoshihara S (2023) A Japanese girl with aldosterone synthase deficiency requiring fludrocortisone until 10 \u2009 years of age. Pediatr Int 65: e15625.","DOI":"10.1111\/ped.15625"},{"key":"58","doi-asserted-by":"crossref","unstructured":"58 Ur Rehman S, Aftab S, Naseem A, Saeed A, Cheema HA (2023) Corticosterone Methyl Oxidase Type 1 (CMO1) deficiency due to CYP11B2 mutation: two case reports. Cureus 15: e39181.","DOI":"10.7759\/cureus.39181"},{"key":"59","doi-asserted-by":"crossref","unstructured":"59 Kamarajan LP, Mahto M, Kumar S, Kumar P (2025) Cracking the code of aldosterone synthase deficiency: bridging genetics and biochemistry: a case report. Lab Med 56: 419\u2013422.","DOI":"10.1093\/labmed\/lmae102"},{"key":"60","doi-asserted-by":"crossref","unstructured":"60 Barbaria W, Bourcheda M, Karabibene E, Jendoubi J, Khamassi I (2024) Aldosterone synthase deficiency: a rare cause of salt-wasting syndrome in a child. Indian J Pediatr 91: 1299.","DOI":"10.1007\/s12098-024-05280-1"},{"key":"61","doi-asserted-by":"crossref","unstructured":"61 Gerard R, Sauvestre C, Barat P, Harambat J, Janot C, et al. (2024) Neonatal salt wasting syndrome: aldosterone synthase deficiency caused by a new splicing variant in CYP11B2. Arch Pediatr 31: 157\u2013160.","DOI":"10.1016\/j.arcped.2023.10.007"},{"key":"62","unstructured":"62 Garrelfs MR, Rinne T, Hillebrand JJ, Lauffer P, Bijlsma MW, et al. (2024) Identification of a novel CYP11B2 variant in a family with varying degrees of aldosterone synthase deficiency. J Clin Res Pediatr Endocrinol 16: 95\u2013101."},{"key":"63","doi-asserted-by":"crossref","unstructured":"63 Yupanqui ME, Schrader-Florez C, L\u00f3pez-Ram\u00edrez S, Valenzuela-Vallejo L, Perez-Barreto A, et al. (2023) Congenital hyperreninemic hypoaldosteronism: a case report. SAGE Open Med Case Rep 11: 2050313x231201724.","DOI":"10.1177\/2050313X231201724"},{"key":"64","doi-asserted-by":"crossref","unstructured":"64 Ghaddhab C, Capper CP, Larriv\u00e9e-Vanier S, Fayad W, Olivier P, et al. (2025) Severe aldosterone synthase deficiency in a 9-day-old lebanese boy: the importance of functional studies to establish pathogenicity of seemingly benign variants in CYP11B2. Horm Res Paediatr 98: 96\u2013102.","DOI":"10.1159\/000536437"},{"key":"65","doi-asserted-by":"crossref","unstructured":"65 Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, et al. (2019) Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1. J Pediatr Endocrinol Metab 32: 959\u2013967.","DOI":"10.1515\/jpem-2018-0538"},{"key":"66","doi-asserted-by":"publisher","unstructured":"66 Martinerie L, Viengchareun S, Delezoide AL, Jaubert F, Sinico M, et al. (2009) Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates. Endocrinology 150: 4414\u20134424.","DOI":"10.1210\/en.2008-1498"},{"key":"67","doi-asserted-by":"crossref","unstructured":"67 Storey C, Dauger S, Deschenes G, Heneau A, Baud O, et al. (2019) Hyponatremia in children under 100 days old: incidence and etiologies. Eur J Pediatr 178: 1353\u20131361.","DOI":"10.1007\/s00431-019-03406-8"},{"key":"68","doi-asserted-by":"crossref","unstructured":"68 Haycock GB (1993) The influence of sodium on growth in infancy. Pediatr Nephrol 7: 871\u2013875.","DOI":"10.1007\/BF01213376"},{"key":"69","doi-asserted-by":"crossref","unstructured":"69 Riepe FG (2009) Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 72: 1\u20139.","DOI":"10.1159\/000224334"},{"key":"70","doi-asserted-by":"crossref","unstructured":"70 Tajima T, Morikawa S, Nakamura A (2017) Clinical features and molecular basis of pseudohypoaldosteronism type 1. Clin Pediatr Endocrinol 26: 109\u2013117.","DOI":"10.1297\/cpe.26.109"},{"key":"71","doi-asserted-by":"crossref","unstructured":"71 Betti C, Lavagno C, Bianchetti MG, Kottanattu L, Lava SAG, et al. (2024) Transient secondary pseudo-hypoaldosteronism in infants with urinary tract infections: systematic literature review. Eur J Pediatr 183: 4205\u20134214.","DOI":"10.1007\/s00431-024-05676-3"},{"key":"72","doi-asserted-by":"crossref","unstructured":"72 Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, et al. (1998) Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 19: 279\u2013281.","DOI":"10.1038\/966"},{"key":"73","doi-asserted-by":"crossref","unstructured":"73 Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, et al. (2000) A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 85: 4690\u20134694.","DOI":"10.1210\/jcem.85.12.7078"},{"key":"74","doi-asserted-by":"crossref","unstructured":"74 Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, et al. (2003) Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab 88: 2508\u20132517.","DOI":"10.1210\/jc.2002-021932"},{"key":"75","doi-asserted-by":"crossref","unstructured":"75 Geller DS, Zhang J, Zennaro MC, Vallo-Boado A, Rodriguez-Soriano J, et al. (2006) Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol 17: 1429\u20131436.","DOI":"10.1681\/ASN.2005111188"},{"key":"76","doi-asserted-by":"crossref","unstructured":"76 Hatta Y, Nakamura A, Hara S, Kamijo T, Iwata J, et al. (2013) Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1. Endocr J 60: 299\u2013304.","DOI":"10.1507\/endocrj.EJ12-0330"},{"key":"77","doi-asserted-by":"crossref","unstructured":"77 Morikawa S, Komatsu N, Sakata S, Nakamura-Utsunomiya A, Okada S, et al. (2015) Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2. Clin Pediatr Endocrinol 24: 135\u2013138.","DOI":"10.1297\/cpe.24.135"},{"key":"78","doi-asserted-by":"crossref","unstructured":"78 Boyanton BL, Jr., Zarate YA, Broadfoot BG, Kelly T, Crawford BD (2024) NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review. Lab Med 55: 640\u2013644.","DOI":"10.1093\/labmed\/lmae005"},{"key":"79","doi-asserted-by":"crossref","unstructured":"79 Bowden SA, Cozzi C, Hickey SE, Thrush DL, Astbury C, et al. (2013) Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. Case Rep Endocrinol 2013: 524647.","DOI":"10.1155\/2013\/524647"},{"key":"80","doi-asserted-by":"crossref","unstructured":"80 Hanukoglu A, Vargas-Poussou R, Landau Z, Yosovich K, Hureaux M, et al. (2020) Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene. J Steroid Biochem Mol Biol 204: 105755.","DOI":"10.1016\/j.jsbmb.2020.105755"},{"key":"81","doi-asserted-by":"crossref","unstructured":"81 Walker BR, Andrew R, Escoubet B, Zennaro MC (2014) Activation of the hypothalamic-pituitary-adrenal axis in adults with mineralocorticoid receptor haploinsufficiency. J Clin Endocrinol Metab 99: E1586\u2013E1591.","DOI":"10.1210\/jc.2014-1420"},{"key":"82","doi-asserted-by":"crossref","unstructured":"82 Escoubet B, Couffignal C, Laisy JP, Mangin L, Chillon S, et al. (2013) Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations. Circ Cardiovasc Genet 6: 381\u2013390.","DOI":"10.1161\/CIRCGENETICS.113.000115"},{"key":"83","doi-asserted-by":"crossref","unstructured":"83 Chang SS, Grunder S, Hanukoglu A, R\u00f6sler A, Mathew PM, et al. (1996) Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 12: 248\u2013253.","DOI":"10.1038\/ng0396-248"},{"key":"84","doi-asserted-by":"crossref","unstructured":"84 Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, et al. (1999) Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 341: 156\u2013162.","DOI":"10.1056\/NEJM199907153410304"},{"key":"85","doi-asserted-by":"crossref","unstructured":"85 Alzahrani AS, Alswailem M, Abbas BB, Qasem E, Alsagheir A, et al. (2021) A unique genotype of pseudohypoaldosteronism type 1b in a highly consanguineous population. J Endocr Soc 5: bvab095.","DOI":"10.1210\/jendso\/bvab095"},{"key":"86","doi-asserted-by":"crossref","unstructured":"86 Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, et al. (2005) Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol (Oxf) 62: 547\u2013553.","DOI":"10.1111\/j.1365-2265.2005.02255.x"},{"key":"87","doi-asserted-by":"crossref","unstructured":"87 Chantzaras AP, Panagiotou P, Koltsida G, Moudaki A, Kanaka-Gantenbein C, et al. (2025) Pulmonary manifestations of Pseudohypoaldosteronism type 1b: a systematic review of the literature. Paediatr Respir Rev 54: 52\u201361.","DOI":"10.1016\/j.prrv.2024.09.001"},{"key":"88","doi-asserted-by":"crossref","unstructured":"88 Riepe FG, van Bemmelen MX, Cachat F, Plendl H, Gautschi I, et al. (2009) Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. Clin Endocrinol (Oxf) 70: 252\u2013258.","DOI":"10.1111\/j.1365-2265.2008.03314.x"},{"key":"89","doi-asserted-by":"crossref","unstructured":"89 Kala Ahluwalia G, Dasouki M, Lennon A (2014) Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. Clin Case Rep 2: 326\u2013330.","DOI":"10.1002\/ccr3.129"},{"key":"90","doi-asserted-by":"crossref","unstructured":"90 Efthymiadou A, Gautschi I, van Bemmelen MX, Sertedaki A, Giannakopoulos A, et al. (2023) A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene. Am J Physiol Endocrinol Metab 325: E1\u2013E9.","DOI":"10.1152\/ajpendo.00332.2022"},{"key":"91","doi-asserted-by":"crossref","unstructured":"91 Adachi M, Tachibana K, Asakura Y, Abe S, Nakae J, et al. (2001) Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G--&gt;A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 86: 9\u201312.","DOI":"10.1210\/jcem.86.1.7116"},{"key":"92","doi-asserted-by":"crossref","unstructured":"92 Adachi M, Asakura Y, Muroya K, Tajima T, Fujieda K, et al. (2010) Increased Na reabsorption <i>via<\/i> the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin Exp Nephrol 14: 228\u2013232.","DOI":"10.1007\/s10157-010-0277-0"},{"key":"93","doi-asserted-by":"crossref","unstructured":"93 Bogdanovi\u0107 R, Staji\u0107 N, Putnik J, Paripovi\u0107 A (2009) Transient type 1 pseudo-hypoaldosteronism: report on an eight-patient series and literature review. Pediatr Nephrol 24: 2167\u20132175.","DOI":"10.1007\/s00467-009-1285-8"},{"key":"94","doi-asserted-by":"crossref","unstructured":"94 Kaninde A, Grace ML, Joyce C, Taylor NF, Ghataore L, et al. (2021) The incidence of transient infantile pseudohypoaldosteronism in Ireland: a prospective study. Acta Paediatr 110: 1257\u20131263.","DOI":"10.1111\/apa.15688"},{"key":"95","doi-asserted-by":"crossref","unstructured":"95 Bizzarri C, Pedicelli S, Cappa M, Cianfarani S (2016) Water balance and \u2018salt wasting\u2019 in the first year of life: the role of aldosterone-signaling defects. Horm Res Paediatr 86: 143\u2013153.","DOI":"10.1159\/000449057"},{"key":"96","doi-asserted-by":"crossref","unstructured":"96 Kuhnle U, Guariso G, Sonega M, Hinkel GK, Hubl W, et al. (1993) Transient pseudohypoaldosteronism in obstructive renal disease with transient reduction of lymphocytic aldosterone receptors. Results in two affected infants. Horm Res 39: 152\u2013155.","DOI":"10.1159\/000182716"},{"key":"97","doi-asserted-by":"crossref","unstructured":"97 Kibe T, Sobajima T, Yoshimura A, Uno Y, Wada N, et al. (2014) Secondary pseudohypoaldosteronism causing cardiopulmonary arrest and cholelithiasis. Pediatr Int 56: 270\u2013272.","DOI":"10.1111\/ped.12267"},{"key":"98","doi-asserted-by":"crossref","unstructured":"98 Tauber KA, Ermacor K, Listman J (2024) Cardiac arrest in a newborn: a case of pseudohypoaldosteronism. Clin Case Rep 12: e8265.","DOI":"10.1002\/ccr3.8265"},{"key":"99","doi-asserted-by":"crossref","unstructured":"99 Bayer M, Kut\u00edlek S (1993) A hereditary form of pseudohypoaldosteronism may be manifested in the course of pyelonephritis. Acta Paediatr 82: 504.","DOI":"10.1111\/j.1651-2227.1993.tb12736.x"},{"key":"100","doi-asserted-by":"crossref","unstructured":"100 Fujioka K, Nakasone R, Nishida K, Ashina M, Sato I, et al. (2022) Neonatal pseudohypoaldosteronism type-1 in Japan. J Clin Med 11: 5135.","DOI":"10.3390\/jcm11175135"},{"key":"101","doi-asserted-by":"crossref","unstructured":"101 Tamura M, Sajo M, Kakita A, Matsuki N, Koyama R (2011) Prenatal stress inhibits neuronal maturation through downregulation of mineralocorticoid receptors. J Neurosci 31: 11505\u201311514.","DOI":"10.1523\/JNEUROSCI.3447-10.2011"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/73\/6\/73_EJ25-0630\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T03:23:56Z","timestamp":1780716236000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/73\/6\/73_EJ25-0630\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":101,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej25-0630","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]},"article-number":"EJ25-0630"}}