{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T15:12:13Z","timestamp":1785337933219,"version":"3.55.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T00:00:00Z","timestamp":1784419200000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Endocrino Diabet &amp; Metabol"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Congenital endocrine salt\u2010wasting syndromes unrelated to 21\u2010hydroxylase deficiency are rare disorders with overlapping clinical and biochemical features at presentation. This study described the spectrum, early clinical course, and 36\u2010month outcomes of these conditions in the era of newborn screening, and assessed whether severity at presentation was associated with later treatment requirements and growth.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective single\u2010center cohort study including infants diagnosed between 1989 and 2023 with endocrine salt\u2010wasting syndromes unrelated to 21\u2010hydroxylase deficiency. Clinical presentation, biochemical findings, treatment requirements, genetic data, and longitudinal growth outcomes up to 36\u2009months were analysed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Twenty patients were included: eight with aldosterone synthase deficiency, six with renal pseudohypoaldosteronism type 1, four with systemic pseudohypoaldosteronism type 1, and two with congenital adrenal hypoplasia. Systemic pseudohypoaldosteronism type 1 presented earliest and with the most severe biochemical abnormalities, requiring higher sodium supplementation at onset. Aldosterone synthase deficiency and renal pseudohypoaldosteronism type 1 presented later, with less severe, overlapping biochemical profiles. Differences in early management across etiologies were mainly limited to sodium supplementation, whereas time to electrolyte stabilization and mineralocorticoid initiation did not differ significantly. In exploratory analyses, severity at presentation was not associated with later treatment requirements or growth outcomes, whereas growth was largely preserved, with greater auxological vulnerability in systemic pseudohypoaldosteronism type 1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Congenital endocrine salt\u2010wasting syndromes unrelated to 21\u2010hydroxylase deficiency show substantial overlap at onset, whereas disease\u2010specific features become more recognizable during follow\u2010up. Growth outcomes were generally preserved with appropriate management and did not appear to be influenced by clinical severity at presentation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/edm2.70281","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T04:35:10Z","timestamp":1784522110000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical Presentation and Early Outcomes of Congenital Endocrine Salt\u2010Wasting Syndromes Unrelated to 21\u2010Hydroxylase Deficiency"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6795-7347","authenticated-orcid":false,"given":"Vittorio","family":"Ferrari","sequence":"first","affiliation":[{"name":"Pediatric Unit IRCCS Azienda Ospedaliero Universitaria di Bologna  Bologna 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