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Patients with high levels of cortisol but no clinical symptoms of Cushing’s syndrome can instead have a disease known as glucocorticoid resistance syndrome, according to a case report that documented a woman who had glucocorticoid resistance syndrome but without its associated genetic mutation. The study, “Cushing’s syndrome with no…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

In rare cases, the appearance of blood clots in arteries may be the first symptom of Cushing’s syndrome, a case report shows. That finding, “Arterial thrombosis as primary presentation of endogenous Cushing’s syndrome,” was published in the journal BMJ Case Reports. Cushing’s syndrome is a condition…

Stereotactic radiosurgery — a targeted form of radiation therapy — can effectively reduce hormone levels and control tumor progression in children and adolescents with hormone-secreting pituitary adenomas, particularly those with Cushing’s disease and acromegaly, a retrospective study shows. The study, “Outcomes after Gamma knife Stereotactic Radiosurgery in pediatric…

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,…