Familial Cushing Disease.
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.
D000328:Adult; D003241:Consanguinity; D003480:Cushing Syndrome / Q000175:diagnosis / Q000235:genetics*; D003907:Dexamethasone; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010375:Pedigree
D003907:Dexamethasone