ArticleEndocrinology, diabetes & metabolism2026
Clinical Presentation and Early Outcomes of Congenital Endocrine Salt-Wasting Syndromes Unrelated to 21-Hydroxylase Deficiency.
Article in Endocrinology, diabetes & metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Comment on 'Clinical Presentation and Early Outcomes of Congenital Endocrine Salt-Wasting Syndromes Unrelated to 21-Hydroxylase Deficiency'.Endocrinology, diabetes & metabolism · 2026Article
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8 authors.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveCongenital endocrine salt-wasting syndromes unrelated to 21-hydroxylase deficiency are rare disorders with overlapping clinical and biochemical features at presentation. This study described the spectrum, early clinical course, and 36-month outcomes of these conditions in the era of newborn screening, and assessed whether severity at presentation was associated with later treatment requirements and growth.
methodsRetrospective single-center cohort study including infants diagnosed between 1989 and 2023 with endocrine salt-wasting syndromes unrelated to 21-hydroxylase deficiency. Clinical presentation, biochemical findings, treatment requirements, genetic data, and longitudinal growth outcomes up to 36 months were analysed.
resultsTwenty 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.
conclusionsCongenital endocrine salt-wasting syndromes unrelated to 21-hydroxylase deficiency show substantial overlap at onset, whereas disease-specific features become more recognizable during follow-up. Growth outcomes were generally preserved with appropriate management and did not appear to be influenced by clinical severity at presentation.
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