Diagnostic dilemma in a neonate: Pseudo Hypoaldosteronism mimicking congenital adrenal hyperplasia
DOI:
https://doi.org/10.12669/pjms.42.2.12705Keywords:
Pseudohypoaldosteronism, Congenital Adrenal Hyperplasia, Adrenal Gland, Adrenal Gland Hyperplasia, Hyperkalaemia, Hyponatraemia, Renin, Aldosterone, Metabolic AcidosisAbstract
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.
