Rapidly Fatal Ectopic Adrenocorticotropic Hormone Syndrome in a 9-Year-Old Girl With Ewing Sarcoma.

Background: Ewing sarcoma (ES) with ectopic adrenocorticotropic hormone (ACTH) syndrome (ectopic ACTH) is extremely unusual. This report details the first case in English literature of pediatric ES involving the proximal aspect of the humerus with florid ectopic ACTH. Case Report: A 9-year-old girl presented with mooning of the face and abdominal distension for the past 5 months with an unremarkable history. Her serum cortisol level measured at 8 AM was 42 µg/dL (reference range, 4.3-22.4 µg/dL). Serum ACTH level of 225 pg/mL (reference range, 10-46 pg/mL) suggested ACTH-dependent Cushing syndrome. Her serum cortisol level after the overnight dexamethasone suppression test was 60 µg/dL (reference value, <1.8 µg/dL), suggesting nonsuppressibility. The high-dose dexamethasone suppression test was nonsuppressible, suggesting ectopic ACTH secretion. Findings of magnetic resonance imaging of the brain were normal. Chest x-ray demonstrated a lytic lesion in the left humerus. Magnetic resonance imaging and 3-dimensional computed tomography scans of the left shoulder showed an expansile lesion in the proximal aspect of the humerus. A tru-cut bone biopsy with histopathology and immunostaining revealed clusters of small round cells with a mitotic index of 6/10 hpf to 8/10 hpf. CD99 staining confirmed ES. Ketoconazole was initiated. She received 1 cycle of chemotherapy with cyclophosphamide, vincristine, and doxorubicin and succumbed to the illness 1 week after chemotherapy. Discussion: Ectopic ACTH in the pediatric age group is rare and, coupled with the underlying etiology as ES, makes this case unique. Only 4 cases of ectopic ACTH with ES have been previously reported in the tibia, retroperitoneum, ischiopubic rami, and ribs. This is the first case of ES to have its origin in the humerus with ectopic ACTH. Conclusion: This case highlights an atypical presentation of ectopic ACTH caused by ES arising from the humerus. The etiology of ectopic ACTH as ES was confirmed by chance radiographic evidence of a lytic humerus lesion rather than symptoms.

Plasma cortisol response to 1-24 adrenocorticotropin in patients with treated/untreated sellar & suprasellar mass lesions.

BACKGROUND & OBJECTIVES: One microgram short synacthene test is widely recommended as a screening test for evaluation of hypothalamo-pituitary-adrenocortical axis in patients with secondary adrenal insufficiency. Information on adequacy of cortisol response to this dose at different periods of the day in patients with hypothalamic-pituitary disorders is not available. Hence, this study was designed to assess the adequacy of cortisol response to 1 microg 1-24 adrenocorticotropin (ACTH) at 0800 h and 1600 h in patients with sellar and suprasellar mass lesions. METHODS: Thirty five consecutive patients with sellar and suprasellar mass lesions with mean age of 43.0+/-14.4 yr and 36 healthy controls with mean age of 32.3+/-9.0 yr were studied after obtaining informed consent. Maintenance doses of glucocorticoids in these patients were discontinued appropriately. On day 1, prestimulated and stimulated plasma cortisol samples at 0800 h and at 30 and 60 min following i.v. bolus of 1 microg 1-24 ACTH were collected. While on day 3, plasma cortisol samples were similarly collected at 1600 h. Cortisol estimation was done by a sensitive and specific radioimmunoassay. Stimulated plasma cortisol of 500 nmol/l or higher was defined as a normal response. RESULTS: In healthy controls, the prestimulated and peak cortisol levels at 0800 h (377.5+/-93.3 and 729.1+/-183.2 nmol/l) were higher (P<0.001 and P<0.01) than those at 1600 h (230.1+/-75.7 and 665.8+/-138.6 nmol/l). All subjects had a cortisol response of 500 nmol/l or higher in response to 1 microg 1-24 ACTH both at 0800 and 1600 h. In the patients' group, the prestimulated plasma cortisol at 0800 h (250.3+/-169.7 nmol/l) was higher (P<0.001) than that at 1600 h (166.3+/-128.9 nmol/l), while the peak cortisol response was comparable (P>0.05) in the morning as well as in the evening (490.9+/-309.4 vs 464.8+/-318.4). In 27 patients (77%) the morning and evening stimulated cortisol response to 1 microg 1-24 ACTH was consistent (normal in 13 and subnormal in 14) but was discrepant in the remaining 8 (23%). In 7 of these 8 patients, cortisol response was normal at 0800 h but not at 1600 h, while in only one, normal response was seen at 1600 h but not at 0800 h. INTERPRETATION & CONCLUSION: The demonstration of normal peak cortisol response to 1 microg 1-24 ACTH at 0800 h but not at 1600 h in substantial number of patients with sellar and suprasellar mass lesions suggests preference to morning for performing this test.

Maxillary mass as the presenting manifestation of papillary thyroid carcinoma.

A case of follicular variant of papillary thyroid carcinoma presenting with a right maxillary mass is described. This is perhaps the first instance of maxillary metastasis from papillary thyroid carcinoma.