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.

Efficacy and safety of evogliptin versus sitagliptin as an add-on therapy in Indian patients with type 2 diabetes mellitus inadequately controlled with metformin: A 24-week randomized, double-blind, non-inferiority, EVOLUTION INDIA study.

AIM: This study aimed to assess efficacy and safety of evogliptin versus sitagliptin, when added to background metformin therapy in Indian patients with uncontrolled type 2 diabetes. METHOD: Overall, 184 patients with uncontrolled type 2 diabetes (7% ≤ HbA1c < 10%) receiving ≥8 weeks of stable metformin monotherapy (≥1 g/day), were randomized to receive add-on treatment (evogliptin 5 mg or sitagliptin 100 mg) for 24 weeks. Primary endpoint was change in HbA1c from baseline to 12 weeks (non-inferiority margin: <0.35). RESULTS: Mean reductions in HbA1c at 12 weeks in evogliptin- and sitagliptin-treated patients were -0.37 (1.06) and -0.32 (1.14), respectively. The adjusted mean difference between treatment groups was -0.022 (95% CI: -0.374, 0.330; P = 0.901), that demonstrated non-inferiority. Reductions in FPG and PPG were similar between evogliptin and sitagliptin at 12 and 24 weeks. Changes in body weight were comparable between the treatment groups. Patients achieving target HbA1c < 7.0% (evogliptin, 26.7% vs. sitagliptin, 20%) was almost equal in both groups. Treatment-emergent adverse events occured in 52 patients (evogliptin, 25% and sitagliptin, 31.5%) and were generally mild. CONCLUSIONS: Evogliptin was non-inferior to sitagliptin in HbA1c reduction. It effectively improved glycemic control and was well tolerated in type 2 diabetes patients inadequately controlled by metformin alone.

A Comparative study of examination scores and quantitative sensory testing in diagnosis of diabetic polyneuropathy.

CONTEXT: Many advances have taken place in the detection of diabetic polyneuropathy with respect to examination scores, electrophysiological techniques and quantitative sensory testing. AIM: This study aims to evaluate the discriminative power of the Diabetic Neuropathy Examination Score (DNE), 10-g Semmes-Weinstein Monofilament Examination (SWME) and Quantitative Sensory Testing by Vibration Perception Threshold (VPT) in the diagnosis of diabetic polyneuropathy and seek an optimal screening method in diabetic clinic. MATERIALS AND METHODS: Hundred consecutive patients with Type 2 diabetes were subjected to Diabetic Neuropathy Symptom Score, DNE score, Semmes-Weinstein monofilament examination, Vibration Perception Threshold and Nerve Conduction Studies; mean +/- SD for the various characteristics were calculated. Sensitivity and specificity for the DNE, SWME and VPT were calculated, taking NCS as gold standard. RESULTS: Seventy one of 100 subjects had evidence of neuropathy confirmed by Nerve Conduction Studies, while 29 did not have neuropathy. The DNE score gave a sensitivity of 83% and a specificity of 79%. The sensitivity of SWME was 98.5% and specificity was 55%. Vibration Perception Thresholds yielded a sensitivity of 86% and a specificity of 76%. CONCLUSIONS: A simple neurological examination score is as good as Vibration Perception threshold in evaluation of polyneuropathy in a diabetic clinic. It may be a better screening tool for diagnosis of diabetic polyneuropathy in view of the cost effectiveness and ease of applicability.

Type 1 renal tubular acidosis with sensorineural deafness.

We report a case of Type 1 Renal Tubular Acidosis (RTA) in association with sensorineural deafness. Inherited Type 1 RTA is usually autosomal dominant, though there is a rarer recessive form associated with nerve deafness. Simple alkali replacement can correct the systemic metabolic defect, but does not appear to ameliorate hearing loss.

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.