Endocrine Abstracts

ACTH resistance syndromes (ARS) are rare, severe and heterogeneous diseases that include either familial glucocorticoid deficiency (FDG) or Allgrove syndrome (AS). FDG is a rare autosomal recessive disorder resulting from mutation in genes encoding either the ACTH-receptor (ACTHR) in FDG1, or its accessory protein MRAP, in FDG2. AS is characterized by adrenal insufficiency due to ACTH resistance, alacrimia, and achalasia secondary to mutations in the AAAS gene, which ...