# Diagnostic dilemma in a neonate: Pseudo Hypoaldosteronism mimicking congenital adrenal hyperplasia

## TL;DR

A neonate with symptoms resembling congenital adrenal hyperplasia was later diagnosed with pseudo hypoaldosteronism through genetic testing.

## Contribution

The case highlights the importance of genetic testing for accurate diagnosis when steroid therapy fails in neonates with electrolyte imbalances.

## Key findings

- The neonate had persistent electrolyte abnormalities despite steroid therapy for CAH.
- Genetic testing identified a homozygous pathogenic mutation in SCNN1B, confirming PHA Type I-B.
- Early genetic testing is crucial for distinguishing PHA from CAH in neonates.

## 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.

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.

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.