ArticlePakistan journal of medical sciences2026
Diagnostic dilemma in a neonate: Pseudo Hypoaldosteronism mimicking congenital adrenal hyperplasia.
Article in Pakistan journal of medical sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Pseudo hypoaldosteronism (PHA) and congenital adrenal hyperplasia (CAH) can present with similar biochemical abnormalities in neonates, making early diagnosis challenging. We report a neonate who presented with hyponatremia, hyperkalemia, and metabolic acidosis and was initially managed as CAH with steroid therapy. Outcome: Despite treatment, the electrolyte abnormalities persisted, prompting further evaluation. Genetic testing revealed a homozygous pathogenic mutation in SCNN1B, confirming autosomal recessive PHA Type I-B. Conclusion: Persistent electrolyte derangements despite appropriate steroid therapy should raise suspicion for PHA. Early genetic testing is essential for accurate diagnosis and targeted management in neonates with overlapping presentations of CAH and PHA.
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