Familial Cushing Disease

Am J Med Genet. 1981;8(1):91-4. doi: 10.1002/ajmg.1320080111.


A 28-year-old woman and her niece presented with manifestations of the Cushing syndrome. Endocrine studies, including small-and large-dose dexamethasone-suppression test confirmed the diagnosis of pituitary ACTH excess. The first patient had a sella of normal size and went into clinical and hormonal remission after external pituitary irradiation, and she has remained well of follow-up for 9 years. The niece had an enlarged sella turcica on tomography and is receiving a course of external pituitary irradiation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Consanguinity
  • Cushing Syndrome / diagnosis
  • Cushing Syndrome / genetics*
  • Dexamethasone
  • Diagnosis, Differential
  • Female
  • Humans
  • Pedigree


  • Dexamethasone