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Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for familial hypoaldosteronism.
6 publications have been identified in PubMed for familial hypoaldosteronism. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).
Musa SA (2026). [PMID: 42255436](https://pubmed.ncbi.nlm.nih.gov/42255436/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Vijayakumar V (2025). [PMID: 40352883](https://pubmed.ncbi.nlm.nih.gov/40352883/). *Indian journal of nephrology*. [Case Report / Case Series]
Pande M (2025). [PMID: 40192663](https://pubmed.ncbi.nlm.nih.gov/40192663/). *Endocrinology, diabetes & metabolism case reports*. [Case Report / Case Series]
Borges KS (2024). [PMID: 39229119](https://pubmed.ncbi.nlm.nih.gov/39229119/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Liu X (2024). [PMID: 38903768](https://pubmed.ncbi.nlm.nih.gov/38903768/). *Frontiers in pediatrics*. [Epidemiology / Natural History]
Data assembled from 3 of 12 sources · Last updated Oct 4, 2026, 6:16 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Betti C (2024). [PMID: 38985174](https://pubmed.ncbi.nlm.nih.gov/38985174/). *European journal of pediatrics*. [Review / Meta-Analysis]