News

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Cushing’s syndrome patients have a higher risk of fractures due to reduced bone mineral density and osteoporosis, but these issues are not associated with vitamin D or parathyroid hormone levels, two important regulators of bone health, a study shows. The study, “Bone health in patients with Cushing’s…

Cushing’s disease patients in Sweden have a higher risk of death than the general Swedish population, particularly of cardiovascular complications, and that increased risk persists even in patients in remission, a large nationwide study shows. The study, “Overall and disease-specific mortality in patients with Cushing’s disease: a Swedish nationwide study,”…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

Long-term exposure to high levels of the adrenocorticotropic hormone (ACTH) may lead to a recurrence of Cushing’s disease even after surgical treatment, according to a case report. Detailed guidelines are needed to help physicians determine the best approach to treating patients with Cushing’s and preventing disease recurrence. The study, “…

The production of adenocorticotropic hormone (ACTH) by the placenta during pregnancy may complicate and worsen Cushing’s syndrome manifestations, a case report shows. The study, “Exacerbation of Cushing’s syndrome during pregnancy: stimulation of a cortisol-secreting adrenocortical adenoma by ACTH originating from the foeto-placental unit” was published in the journal Endocrinology,…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Mutations in the GNAS gene might indicate patients with subclinical Cushing’s syndrome — mild cortisol elevation without physical signs of Cushing’s — whose disease is caused by distinct mechanisms of other Cushing’s syndrome patients. Screening for GNAS gene mutations may help diagnose patients with this type of Cushing’s syndrome and improve their outcomes,…

Cushing’s syndrome patients who undergo adrenal surgery are more likely to have venous thromboembolism — blood clots that originate in the veins — than patients who have the same procedure for other conditions, a study suggests. Physicians should consider preventive treatment for this complication in Cushing’s syndrome patients who are…

A study reports that intravenous infusion with etomidate can stabilize dangerously high cortisol in Cushing’s syndrome patients experiencing episodes of cortisol excess. The study, “Continuous Etomidate Infusion for the Management of Severe Cushing Syndrome: Validation of a Standard Protocol,” was published in Journal of the Endocrine Society. Cushing’s…