Abstract
Cushing disease (CD), which is ACTH-dependent hypercortisolism is an exceedingly rare condition in pediatrics. The exact annual incidence is unknown but estimated to be approximately 0.7-2.4 cases per million people, with approximately 10% occurring in children, making the incidence in pediatrics <0.5 per million.(Lodish, et al. 2018; Sharma, et al. 2015) Of the pediatric cases, few are prepubertal. Of the pituitary tumors, microadenomas are most common. Pituitary macroadenomas accounts for 5-10% of all cases Cushing disease. The first line therapy is surgical resection of the adenoma. Remission rates are better with microadenomas (~75%) compared with macroadenomas (~43%).(Nieman et al. 2015) If a surgical resection is not curative, defined by the persistent elevation of morning serum cortisol > 5 μg/dl, then second-line therapies are required. We describe a 9-year-old African American female who initially presented with symptoms of significant weight gain, lower extremity edema and hypertension. Initial random (late-morning) serum cortisol level was 38.3 μg/dl and ACTH 99 pg/ml. Ultrasound of adrenal glands did not show any distinct masses. MRI brain showed 1.9 cm macroadenoma in the sella. She underwent transsphenoidal resection. Histology confirmed an ACTH-secreting tumor without atypical features: Ki67 <3%, P53 negative. Postoperatively, serum cortisol levels remained elevated to as high as 23.1 μg/dl. In the subsequent weeks following surgery, cortisol levels at different times of day demonstrated loss of normal diurnal rhythm. She also developed symptoms of headaches, anorexia and vomiting. Interestingly, repeat MRI brain was performed but did not show any residual tumor despite persistent biochemical CD. Persistent CD is defined as a sustained elevation in post-surgical cortisol levels. It may be secondary to residual tumor hidden within the gland, or invasion into the cavernous sinus or other neighboring spaces.(Nieman et al. 2015) The family should be included in the medical decision making regarding second line therapies given the long-term health related quality of life issues surrounding patients with CD. Second line therapies include repeat transsphenoidal surgery, radiotherapy, medical therapy, or bilateral adrenalectomy.(Nieman et al. 2015) Multiple comorbidities need to be addressed in the treatment of CD, on the one hand with persistent disease, hypertension, hyperglycemia, obesity and on the other hand with curative resection, possible panhypopituitarism and/or adrenal insufficiency. Patients may also suffer from “glucocorticoid withdrawal syndrome” secondary to relative deficiency of cortisol with symptoms of anorexia, nausea and fatigue and may require psychosocial support. (Nieman et al. 2015) Regardless of if the initial therapy was curative or not, patients with CD require long-term monitoring of secondary comorbidity outcomes. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. Abstracts presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.