Late diagnosis of Cushing's disease in a child: what lessons can be learned?

We present a case of late diagnosis of an adolescent female with Cushing's disease or excess glucocorticoid secretion due to the presence of an adrenocorticotropic hormone (ACTH) secreting tumor on the pituitary. Her main complaints at first presentation in 2008 were short stature and weight gain. Although these are the main criteria for testing for Cushing's syndrome outlined by the 2008 Endocrine Society guidelines, they were not enough to lead to a timely diagnosis. The reasons may include the endocrinologists believing that additional more common symptoms needed to be present to test for Cushing's syndrome. Consequently, the guidelines were not followed leading to placing the child on growth hormone (GH) with no further evaluation until well after 1 year of minimal growth. While Cushing's syndrome is rare in children and hard to diagnose, a more collaborative effort among pediatricians, endocrinologists, radiologists, surgeons, as well as parents, is required to diagnose and help cure children with this disease.