Conditions / Endocrine

ACTH-independent macronodular adrenal hyperplasia 2

info ยท Endocrine

An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2.

Signs and symptoms

  • Increased urinary cortisol level
  • Decreased circulating ACTH concentration
  • Increased circulating cortisol level
  • Hyperglycemia
  • Fatigue
  • Osteoporosis
  • Macronodular adrenal hyperplasia
  • Depression
  • Hypertension
  • Round face

Also known as: AIMAH2