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Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).
The syndrome usually presents in infancy as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects are less severely affected or asymptomatic.
It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene.
Management and treatment
Increased sodium intake and mineralocorticoid supplementation provides effective treatment.