From crisis to catch-up: Reversing salt-wasting in an Indian infant with CMO II deficiency – A case report
Year: 2025
Type: article
Study design: Case Report
Abstract: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder due to CYP11B2 gene mutations, presenting with life-threatening salt-wasting in infancy. Corticosterone methyl oxidase (CMO) II deficiency is a subtype characterized by low aldosterone and elevated 18-hydroxycorticosterone. We report a 7-month-old Indian male infant with failure to thrive, hyponatremia, hyperkalemia, and developmental delay. Whole exome sequencing identified compound heterozygous CYP11B2 mutations, confirming CMO II deficiency. Fludrocortisone therapy resulted in rapid clinical recovery and developmental catch-up. This case underscores the importance of early recognition and treatment of ASD for favorable long-term outcomes.
Authors: Bhargav Girishbhai Patel, Ruchi Aneesh Shah
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4416230930