{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T03:13:30Z","timestamp":1785208410489,"version":"3.55.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T00:00:00Z","timestamp":1625788800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T00:00:00Z","timestamp":1625788800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Aldosterone (Ald) is a crucial factor in maintaining electrolyte and water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) manifestation. This disease group is rare, while most reported cases are sporadic. This study aimed to obtain an overview of the etiology and clinical picture of patients with the above condition and report our rare cases.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>A combination of retrospective review and case studies was conducted at the Pediatric Endocrine unit of The First Affiliated Hospital Sun Yat Sen University from September 1989 to June 2020.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A total of 187 patients with SW were enrolled, of which 90.4% (<jats:italic>n<\/jats:italic>\u2009=\u2009169) were diagnosed with congenital adrenal hyperplasia (CAH). SW type 21-hydroxylase deficiency accounted for 98.8% (<jats:italic>n<\/jats:italic>\u2009=\u2009167) of CAH diagnosis, while 1.2% (<jats:italic>n<\/jats:italic>\u2009=\u20092) was of lipoid CAH. Non-CAH comprised 9.6% (<jats:italic>n<\/jats:italic>\u2009=\u200918) of the total patients whose etiologies included SF-1 gene mutation (<jats:italic>n\u2009=<\/jats:italic>\u00a01), X-linked adrenal hypoplasia congenita (<jats:italic>n<\/jats:italic>\u2009=\u20099), aldosterone synthase deficiency (ASD, <jats:italic>n<\/jats:italic>\u2009=\u20094), and pseudo-hypoaldosteronism type 1 (PHA1, <jats:italic>n<\/jats:italic>\u2009=\u20091). Etiologies were not identified in three patients. All of patients with ASD and PHA1 exhibited SW syndrome in their early neonatal period. DNA sequencing showed mutations of <jats:italic>CYP11B2<\/jats:italic> for P1-P4 and <jats:italic>NR3C2<\/jats:italic> for P5. P1 and P2 were sibling brothers affected by compound heterozygous mutations of c.1121G\u2009&gt;\u2009A (p.R374Q) and c.1486delC p.(L496fs); likewise, P4 was identified with compound heterozygous mutations of c.1200\u2009+\u20091G\u2009&gt;\u2009A and c.240\u20131\u2009G\u2009&gt;\u2009T; meanwhile P3 demonstrated c.1303G\u2009&gt;\u2009A p.(G435S) homozygous mutation in <jats:italic>CYP11B2<\/jats:italic> gene. Lastly, P5 showed c.1768 C\u2009&gt;\u2009T p.(R590*) heterozygous\u00a0mutation in the <jats:italic>NR3C2<\/jats:italic> gene.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Etiology of infant with aldosterone defect was mostly congenital. Renal and adrenal imaging are recommended to exclude renal causes. If clinical picture is suggestive, normal plasma Ald in early infancy cannot rule out aldosterone insufficiency.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12902-021-00811-9","type":"journal-article","created":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T21:02:40Z","timestamp":1625864560000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Aldosterone signaling defect in young infants: single-center report and review"],"prefix":"10.1186","volume":"21","author":[{"given":"Melati","family":"Wijaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huamei","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minlian","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanhong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiuli","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,9]]},"reference":[{"issue":"3","key":"811_CR1","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/j.clp.2014.05.007","volume":"41","author":"D Bockenhauer","year":"2014","unstructured":"Bockenhauer D, Zieg J. 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The need for informed consent was waived by the ethics committee of The First Affiliated Hospital, Sun Yat Sen University.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent for publication of identifying information in an online open-access publication was obtained from parents\/legally authorized representatives of the minor participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"149"}}