Mutations in USP48 and BRAF genes contribute to the overproduction of adrenocorticotropin (ACTH) hormone by the pituitary gland and consequent development of Cushing’s disease, a study shows, linking these genes to the disease for a first time. The study, “Identification…
News
Pre-surgery treatment of adrenocorticotropic hormone (ACTH)-independent Cushing’s syndrome with Metopirone (metyrapone) leads to effective and safe improvement of hormonal levels and clinical parameters, according to a new pilot study. The research, “Preoperative treatment with metyrapone in patients with Cushing’s syndrome due to adrenal adenoma: a pilot prospective…
Low-dose Use of Chemotherapy, Lysodren, May Treat Children Ineligible for Surgery, Study Reports
Low-dose Lysodren (mitotane) can help restore growth rates and pubertal development, and lower body mass index (BMI) in children with Cushing’s disease who are not eligible for pituitary surgery. But side effects can be serious and need to be monitored closely, a study reports. The study, “Mitotane (op’DDD)…
Bilateral inferior petrosal sinus sampling (BIPSS) — a diagnostic technique for Cushing’s disease that measures the levels of the adrenocorticotropic hormone (ACTH) hormone produced by the pituitary gland — is not as accurate as previously reported in children and adolescents with Cushing’s, a retrospective study shows. However, BIPSS sensitivity improved following…
The U.S. Food and Drug Administration has approved the clinical use of a magnetic resonance imaging (MRI) scanner — the ultra-high-field 7T Terra MRI — with unprecedented resolution that allows for more reliable images of the brain. The approach recently allowed the precise localization of a small tumor…
Strongbridge Biopharma released additional positive results from a Phase 3 trial evaluating whether the company’s investigational therapy Recorlev (levoketoconazole) is safe and effective for people with endogenous Cushing’s syndrome. The latest results were presented in the scientific poster “Safety and Efficacy of Levoketoconazole in Cushing Syndrome: …
Pituitary tumor conditions, such as Cushing’s disease, have a substantial effect on patients’ work capabilities and health-related quality of life, researchers from The Netherlands reported. The study, “Work disability and its determinants in patients with pituitary tumor-related disease,” was published in the journal Pituitary. Pituitary tumors, like…
#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…
A recent case report describes a 7-year-old boy with Cushing’s disease who had an unusual clinical presentation, which significantly delayed his diagnosis. The study, “A variable course of Cushing’s disease in a 7 year old: diagnostic dilemma,” was published in the Journal of Pediatric Endocrinology and Metabolism.
Cushing’s disease patients whose pituitary tumors carry a USP8 mutation are more likely to achieve remission after surgery than those without such mutations, a retrospective Italian study found. The study, “Clinical characteristics and surgical outcome in USP8-mutated human adrenocorticotropic hormone-secreting pituitary adenomas,” was published in the journal…
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