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Updated: Mar 18, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Diagnostic dilemma in a neonate: Pseudo Hypoaldosteronism mimicking congenital adrenal hyperplasia
Hamid Bin Tariq1, Suleman Saeed2, Ahmed Arslan3
1Hamid Bin Tariq Final Year MBBS Student, University College of Medicine and Dentistry, Lahore, Pakistan.
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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