Congenital Hypoaldosteronism

Abstract

Identical male twins suffering from congenital hypoaldosteronism due to a rare adrenal enzyme deficiency between corticosterone and aldosterone were followed-up from birth till their present age of 13 years. The symptoms of salt loss disappeared and normal growth rate resumed following treatment with DOCA and salt supplementation. Discontinuation of mineralocorticoid administration at the age of 7 years resulted during a 5-year period in a marked decline in their growth rate. Laboratory data revealed a persistent, albeit less pronounced, metabolic impairment. Mineralocorticoid administration was resumed and the twins entered normal puberty and increased their growth rate, emphasizing their need for continued mineralocorticoid administration to maintain adequate growth rate and development.

Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in <i>CYP11B2</i>

“…Twelve patients from eight families, reported in 1977, had the same mutation but there was a marked range in clinical severity, which varied from an asymptomatic state in adulthood to acute salt-wasting crisis in infancy, detected only by biochemical profile. So researchers concluded that individual differences in the degree of severity do not reflect the allele variant ( 5 ). Instead, they indicate the effects of other genetic loci or non-genetic factors ( 17 ).…”

“…CMO deficiency (CMOD) type 2 is a rare disorder with unknown prevalence. A particularly high population density of CMOD type 2 was identified in Iranian Jews from the city Isfahan ( 5 ), but the disease has been documented throughout Europe and North America ( 6 , 7 ).…”