Corticosterone Methyloxidase Deficiency (CYP11B2)
Corticosterone methyloxidase deficiency is a rare autosomal recessive disease which is caused by pathogenic variants in the gene CYP11B2. While it has been reported in individuals of different ethnicities, founder mutations may increase the prevalence of the disease in some Amish communities, as well as Sephardic Jewish individuals from Iran. Onset is in infancy, and clinical features include a failure to thrive and electrolyte imbalances. Infants are susceptible to salt-wasting crises, which can be fatal. However, symptoms tend to improve with age, and adults maybe asymptomatic. For patients who survive infancy, life expectancy is not reduced. No genotype-phenotype correlation has been reported.
For information about carrier frequency and residual risk, please see the residual risk table.