Neonatal pseudo-hypoaldosteronism type 1 with a novel gene variant.

Pseudohypoaldosteronism (PHA) is a rare disorder that mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis. Molecular genetic testing may confirm the diagnosis. We present a 12-day-old boy who presented with salt loss and dehydration, initially thought to be CAH which was later confirmed biochemically to be PHA type 1, and eventually genetic testing revealed the presence of the novel heterozygous NM_000901.5(NR3C2):c.1876T>G (p.(Phe626Val)) variant in the infant and in his father. Interestingly, the father had asymptomatic hyperaldosteronism. We classified NM_000901.5(NR3C2):c.1876T>G as likely pathogenic according to the American College of Medical Genetics and Genomics criteria. Functional validation and/or identifying more patients with NM_000901.5(NR3C2):c.1876T>G are necessary to corroborate the pathogenicity of the variant.