News

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…

An important cellular pathway involved in multiple cancers could potentially be targeted to treat adrenal cancers that cause Cushing’s syndrome, a study has found. The study, “MAPK/ERK pathway inhibition is a promising treatment target for adrenocortical tumors,”…

A patient with depression developed Cushing’s syndrome (CS) because of a rare ACTH-secreting small cell cancer of the prostate, a case study reports. The case report, “An unusual cause of depression in an older man: Cushing’s syndrome resulting from metastatic small cell cancer of the…

Keytruda (pembrolizumab) may not be effective in Lynch syndrome patients — those with inherited mutations in certain DNA repair genes — who develop Cushing’s syndrome due to cortisol-secreting metastatic adrenal cancer, a case report suggests. The report, “Rapid disease progression in a patient with mismatch…

Patients with subclinical hypercortisolism, i.e., without symptoms of cortisol overproduction, and adrenal incidentalomas recover their hypothalamic-pituitary-adrenal (HPA) axis function after surgery faster than those with Cushing’s syndrome (CS), according to a study. Moreover, the researchers found that an HPA function analysis conducted immediately after the surgical removal of adrenal…

Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…

A type of immune cell called a macrophage in the gonadal fat tissue may be key in glucocorticoid-induced insulin resistance in patients with Cushing’s syndrome, according to a mouse study. The study, “Glucocorticoid-induced insulin resistance is related to macrophage visceral adipose tissue infiltration,” appeared in the…

A patient was diagnosed with Cushing’s syndrome caused by a very rare cancer known as small cell carcinoma of the uvula — the small tissue that hangs at the back of the throat — in a case study that scientists think might be unique. The study, “The…