Abstract
 Isolated congenital hypoaldosteronism is a rare disorder that presents as chronic salt-wasting syndrome during infancy. Aldosterone synthase deficiency due to mutations in _CYP11B2_ is the underlying cause in most cases. Apart from the classical electrolyte disturbances (hyponatremia and hyperkalemia), no other extra-adrenal features have been described to date.
Primary hypoaldosteronism and moderate bilateral deafness in a child with a homozygous missense mutation (Thr318Met) in the CYP11B2 gene
 
  Keywords
 
 
  
   Hypoaldosteronism
  
 
 
  
   Hypocusia
  
 
 
  
   CYP11B2
  
 
Abstract
 Isolated congenital hypoaldosteronism is a rare disorder that presents as chronic salt-wasting syndrome during infancy.
Aldosterone synthase deficiency due to mutations in _CYP11B2_ is the underlying cause in most cases.
Apart from the classical electrolyte disturbances (hyponatremia and hyperkalemia), no other extra-adrenal features have been described to date.
We report a male child with congenital hypoaldosteronism due to a homozygous missense mutation (Thr318Met) in _CYP11B2_ who also presented with <dis>unexplained sensorineural hearing loss</dis>.
Abstract
 Isolated congenital hypoaldosteronism is a rare disorder that presents as chronic salt-wasting syndrome during infancy.
Aldosterone synthase deficiency due to mutations in _CYP11B2_ is the underlying cause in most cases.
Apart from the classical electrolyte disturbances (hyponatremia and hyperkalemia), no other extra-adrenal features have been described to date.
We report a male child with congenital hypoaldosteronism due to a homozygous missense mutation (Thr318Met) in _CYP11B2_ who also presented with unexplained sensorineural hearing loss.
Abstract
 Isolated congenital hypoaldosteronism is a rare disorder that presents as chronic salt-wasting syndrome during infancy. Aldosterone synthase deficiency due to mutations in _CYP11B2_ is the underlying cause in most cases. Apart from the classical electrolyte disturbances (hyponatremia and hyperkalemia), no other extra-adrenal features have been described to date.