{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T05:12:13Z","timestamp":1779340333134,"version":"3.51.4"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:00:00Z","timestamp":1779321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Pseudo-hypoaldosteronism type 1 (PHA1) is a hereditary condition characterized by end-organ resistance to aldosterone, resulting in electrolyte imbalance, metabolic acidosis, and hyperaldosteronism. It is inherited in an autosomal dominant renal or an autosomal recessive systemic form. Here, we report a case series of PHA1, highlighting its challenging diagnosis and underscoring the complexities involved in reaching an accurate diagnosis in a resource-limited setting.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case report<\/jats:title>\n                    <jats:p>Seven patients from seven unrelated Sudanese families were admitted to pediatric endocrinology units at Gaffer Ibn Auf (GIA) Children\u2019s Teaching Hospital in Khartoum, Sudan, between 2010 and 2023, with an initial suspected diagnosis of gastroenteritis or Congenital adrenal hyperplasia (CAH). The age of presentation varied significantly between patients (4\u2013120 days). Failure to thrive and dehydration were the most common presenting symptoms, and one patient was initially misdiagnosed due to prominent respiratory symptoms. Consanguinity was reported in 4 families, and three patients had a family history of neonatal fatalities with a similar presentation. Initial electrolyte abnormalities showed low serum sodium, elevated potassium, and metabolic acidosis, which initially pointed to CAH diagnosis. However, normal cortisol and Adrenocorticotropic hormone (ACTH) levels indicated the need to consider alternative diagnoses, and high aldosterone and renin levels suggested a PHA1 diagnosis confirmed by genetic testing in three patients that revealed mutations in SCNNA, B, and G subunits.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The diagnosis of PHA1 is challenging in Sudan, where the clinical and biochemical features can mimic other common conditions contributing to its delayed diagnosis. Failure to respond to initial glucocorticoid (GC) therapy prompted a consideration of other alternative diagnoses, including PHA1, especially in settings where access to advanced facilities for diagnostic confirmation is limited.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1708536","type":"journal-article","created":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:50:21Z","timestamp":1779339021000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Challenges in the diagnosis of pseudohypoaldosteronism: insights from a resource-limited setting"],"prefix":"10.3389","volume":"17","author":[{"given":"Salwa A.","family":"Musa","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital","place":["Khartoum, Sudan"]},{"name":"Department of Paediatrics and Child Health, Faculty of Medicine, Al-Neelain University","place":["Khartoum, Sudan"]},{"name":"Pediatric Department, The Medical City for Military and Security Services","place":["Muscat, Oman"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nifal S.","family":"Ariss","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital","place":["Khartoum, Sudan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samar S.","family":"Hassan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital","place":["Khartoum, Sudan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omer O.","family":"Babiker","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine and Health Sciences, Omdurman Islamic University","place":["Omdurman, Sudan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghassan F.","family":"Mohamedsalih","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine","place":["Doha, Qatar"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmahan T.","family":"Abdalla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Faculty of Medicine, International University of Africa","place":["Khartoum, Sudan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed A.","family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes, Gaafar Ibn Auf Paediatric Tertiary Hospital","place":["Khartoum, Sudan"]},{"name":"Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum","place":["Khartoum, 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