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Scientists have decoded molecular processes of a gene whose defects are implicated in Cushing’s disease and some cancers. Their study found that mutations in the ubiquitin-specific protease 8 (USP8) gene prevent a self-suppressing mechanism of the resulting enzyme, leading to its overactivation. Overactivation of this enzyme has been shown…

A combination of two easily performed tests reached 100% accuracy for diagnosing Cushing’s disease in people with an initial negative result from an MRI scan, or who had a a small tumor in their brain’s pituitary gland, a study reports. The study, “Indication to dynamic and…

Cushing’s syndrome may develop in people with advanced medullary thyroid cancer and is associated with a poor prognosis, a retrospective analysis suggests. Severely low levels of potassium in the blood, muscle weakness, and/or diabetes in medullary thyroid cancer patients are signs of ectopic Cushing’s. The case-series study, titled “…

In a rare case, a hormone-producing intestinal tumor led to the development of ectopic Cushing’s syndrome in a 50-year-old man, according to a recent report. The patient’s high cortisol levels — a hallmark of hypercortisolism — normalized after he underwent surgery to remove both adrenal glands, which are responsible for…

Over 230 national organizations signed a letter urging all 50 U.S. state governors to “maintain and expand” flexibility with licensure requirements for the duration of the COVID-19 pandemic to ease access to care. During the pandemic, governors used emergency authority to waive certain state licensure requirements, giving healthcare providers…

Cushing’s disease was successfully treated using metyrapone in a pregnant women with no harm to the unborn baby, a case-report found. The report, “Cushing Disease Treated Successfully with Metyrapone During Pregnancy,” was published in the journal AACE Clinical Case Reports. Cushing’s syndrome is characterized by excessive levels of…

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…

A recent report described the rare case of 9-year old girl who developed Cushing’s syndrome due to a hormone-producing Ewing sarcoma, a rare type of tumor that arises in bones or in its surrounding soft tissues. This case, according to the report’s authors, highlights the diagnostic challenges in identifying and…

Early diagnosis and treatment of Cushing’s disease could help prevent or diminish mental health crises, a recent report suggests. In the rare case study, a woman with a history of suicidal depression was found to have Cushing’s disease caused by a pituitary tumor in her brain. Her symptoms eased…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…