Cushing's disease in two sisters

Abstract

Hereditary Cushing's syndrome is an uncommon clinical entity, and most reported cases have been described in families with nodular adrenocortical dysplasia. Isolated cases of Cushing's disease (pituitary-dependent bilateral adrenal hyperplasia) have been reported in association with the multiple endocrine neoplasia syndrome, Type I (MEN I), but there are no published reports of pedigrees with more than one affected family member. Within a period of 8 months, two sisters presented with clinical findings suggestive of hypercortisolism, and Cushing's disease was confirmed by appropriate diagnostic studies. There was no evidence of any other endocrine excess syndrome in either patient. Transsphenoidal pituitary surgery confirmed the presence of an ACTH-immunostaining pituitary adenoma in each woman. The authors think this is the first report in the English literature of Cushing's disease in first-degree relatives.