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Familial cushing disease
Authors:Ibrahim S. Salti  Imad S. Mufarrij  John M. Opitz
Abstract:A 28-year-old woman and her niece presented with manifestations of the Cushing syndrome. Endocrine studies, including small- and large-dose dexamethasone-suppression tests 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 on follow-up for 9 years. The niece had an enlarged sella turcica on tomography and is receiving a course of external pituitary irradiation.
Keywords:ACTH-producing pituitary adenoma  Cushing syndrome  autosomal dominant inheritance  consanguinity
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