Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.

摘要: The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on gene affect activity leading an cortisol, which causes its inappropriate access receptor. Therefore, will bind human maps chromosome 16q22 and consists five exons encoding protein 405 amino acids. We present here clinical molecular studies Brazilian boy who was born pre-term after oligodramnious pregnancy. He diagnosed as having AME at age 26 months. His parents are second cousins. Molecular characterization revealed homozygous mutation p.R186C. patient described case HDS11B2 reported patients with AME.