{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T14:18:55Z","timestamp":1780755535955,"version":"3.54.1"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0239_abs_001_w2aab3b7c61b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0239_abs_002_w2aab3b7c61b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 42-day-old man presented with failure to thrive, hyponatremia, high urine sodium output, severe hyperkalemia and high plasma renin activity and aldosterone levels. <jats:italic>NR3C2<\/jats:italic>, <jats:italic>SCNN1A<\/jats:italic>, <jats:italic>B<\/jats:italic> and <jats:italic>G<\/jats:italic> sequencing showed no variants. Exclusive sodium supplementation resulted in clinical stabilization and growth normalization. His younger sibling had similar clinical and laboratory features, except for low-normal aldosterone. Both patients showed compound heterozygous mutations in <jats:italic>CYP11B2<\/jats:italic> (c.C554T\/2802pbE1-E2del). The younger patient needed transient fludrocortisone treatment and higher sodium supplementation, recuperating his weight and a normal growth velocity, although below his brother\u2019s and target height (c.10th vs. c.50th).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0239_abs_003_w2aab3b7c61b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>On a suggestive clinical picture, high aldosterone plasma levels in early infancy do not rule out aldosterone insufficiency and might mislead differential diagnosis with pseudohypoaldosteronism. Therapeutic requests and growth impairment in hypoaldosteronism vary even with a common genetic background.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0239","type":"journal-article","created":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T20:47:58Z","timestamp":1606769278000},"page":"1501-1505","source":"Crossref","is-referenced-by-count":5,"title":["Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism"],"prefix":"10.1515","volume":"33","author":[{"given":"\u00c1lvaro","family":"Mart\u00edn-Rivada","sequence":"first","affiliation":[{"name":"Departments of Pediatrics & Endocrinology , Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, Instituto de Investigaci\u00f3n La Princesa , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"Argente","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics & Endocrinology , Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, Instituto de Investigaci\u00f3n La Princesa , Madrid , Spain"},{"name":"Department of Pediatrics , Universidad Aut\u00f3noma de Madrid , Madrid , Spain"},{"name":"CIBER Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CIBEROBN) , Instituto de Salud Carlos III , Madrid , Spain"},{"name":"Instituto de alimentaci\u00f3n IMDEA, CEIUAM+CSIC , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5524-2646","authenticated-orcid":false,"given":"Gabriel \u00c1ngel","family":"Martos-Moreno","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics & Endocrinology , Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, Instituto de Investigaci\u00f3n La Princesa , Madrid , Spain"},{"name":"Department of Pediatrics , Universidad Aut\u00f3noma de Madrid , Madrid , Spain"},{"name":"CIBER Fisiopatolog\u00eda de la Obesidad y Nutrici\u00f3n (CIBEROBN) , Instituto de Salud Carlos III , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,8,18]]},"reference":[{"key":"2023040101055744443_j_jpem-2020-0239_ref_001_w2aab3b7c61b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Curnow, KM, Tusie-Luna, MT, Pascoe, L, Natarajan, R, Gu, JL, Nadler, JL, et al. The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol 1991;5:1513\u201322. https:\/\/doi.org\/10.1210\/mend-5-10-1513.","DOI":"10.1210\/mend-5-10-1513"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_002_w2aab3b7c61b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"White, PC. Aldosterone synthase deficiency and related disorder. Mol Cell Endocrinol 2004;217:81\u20137. https:\/\/doi.org\/10.1016\/j.mce.2003.10.013.","DOI":"10.1016\/j.mce.2003.10.013"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_003_w2aab3b7c61b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Zennaro, MC, Lomb\u00e8s, M. Mineralocorticoid resistance. Trends Endocrinol Metabol 2004;15:264\u201370. https:\/\/doi.org\/10.1016\/j.tem.2004.06.003.","DOI":"10.1016\/j.tem.2004.06.003"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_004_w2aab3b7c61b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Ulick, S, Wang, JZ, Morton, DH. The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone. J Clin Endocrinol Metabol 1992;74:1415\u201320. https:\/\/doi.org\/10.1210\/jcem.74.6.1592889.","DOI":"10.1210\/jcem.74.6.1592889"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_005_w2aab3b7c61b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Peter, M, B\u00fcnger, K, S\u00f3lyom, J, Sippell, WG. Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. Eur J Pediatr 1998;157:378\u201381. https:\/\/doi.org\/10.1007\/s004310050833.","DOI":"10.1007\/s004310050833"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_006_w2aab3b7c61b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Dunlop, FM, Crock, PA, Montalvo, J, Funder, JW, Curnow, KM. A compound heterozygote case of type II aldosterone synthase deficiency. J Clin Endocrinol Metabol 2003;88:2518\u201326. https:\/\/doi.org\/10.1210\/jc.2003-030353.","DOI":"10.1210\/jc.2003-030353"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_007_w2aab3b7c61b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Williams, TA, Mulatero, P, Bosio, M, Lewicka, S, Palermo, M, Veglio, F, et al. A particular phenotype in a girl with aldosterone synthase deficiency. J Clin Endocrinol Metabol 2003;89:3168\u201372. https:\/\/doi.org\/10.1210\/jc.2003-031912.","DOI":"10.1210\/jc.2003-031912"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_008_w2aab3b7c61b1b6b1ab2b2b8Aa","doi-asserted-by":"crossref","unstructured":"Hauffa, BP, S\u00f3lyom, J, Gl\u00e1z, E, Shackleton, CH, Wambach, G, Vecsei, P, et al. Severe hypoaldosteronism due to corticosterone methyloxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. Eur J Pediatr 1991;150:149\u201353. https:\/\/doi.org\/10.1007\/bf01963554.","DOI":"10.1007\/BF01963554"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_009_w2aab3b7c61b1b6b1ab2b2b9Aa","doi-asserted-by":"crossref","unstructured":"Gopal-Kothandapani, JS, Doshi, AB, Smith, K, Christian, M, Mushtaq, T, Banerjee, I, et al. Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1. J Pediatr Endocrinol Metabol 2019;32:959\u201367. https:\/\/doi.org\/10.1515\/jpem-2018-0538.","DOI":"10.1515\/jpem-2018-0538"},{"key":"2023040101055744443_j_jpem-2020-0239_ref_010_w2aab3b7c61b1b6b1ab2b2c10Aa","unstructured":"Stowasser, M, Taylor, PJ, Pimenta, E, Ahmed, AH, Gordon, RD. Laboratory investigation of primary aldosteronism. Clin Biochem Rev 2010;31:3956."},{"key":"2023040101055744443_j_jpem-2020-0239_ref_011_w2aab3b7c61b1b6b1ab2b2c11Aa","doi-asserted-by":"crossref","unstructured":"Collinet, E, Pelissier, P, Richard, O, Gay, C, Pugeat, M, Morel, Y, et al. Four cases of aldosterone synthase deficiency in childhood. Arch Pediatr 2012;19:1191\u20135. https:\/\/doi.org\/10.1016\/j.arcped.2012.08.018.","DOI":"10.1016\/j.arcped.2012.08.018"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/view\/journals\/jpem\/33\/11\/article-p1501.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2020-0239\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2020-0239\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T18:03:24Z","timestamp":1680372204000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2020-0239\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,18]]},"references-count":11,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2020,10,23]]},"published-print":{"date-parts":[[2020,11,26]]}},"alternative-id":["10.1515\/jpem-2020-0239"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2020-0239","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8,18]]}}}