A novel compound heterozygous mutation in CYP11B2 (p.A153P and p.Q337*) associated with primary hypoaldosteronism

Persistent hyponatremia necessitates thorough evaluation to rule out hypoaldosteronism, where genetic testing facilitates early definitive diagnosis. Long-term clinical follow-up remains critical for individualized treatment optimization. In this study, we reported the first identification of a novel <i>CYP11B2</i> mutation (<i>p.A153P</i>) and confirmed its genetic association with the classic hypoaldosteronism phenotype, expanding the mutational spectrum of <i>CYP11B2</i> and providing novel insights into the genetic basis of ASD. This newly identified mutation expands the spectrum of mutations in primary hypoaldosteronism.