Endocrine Abstracts

11-deoxycorticosterone (DOC) is an aldosterone precursor synthesized from progesterone and converted to corticosterone in the adrenal cortex. DOC overproduction due to an adrenal lesion is a very rare cause of mineralocorticoid-induced hypertension. The objective of this study is to provide the most relevant clinical features that clinicians dealing with patients presenting with the hallmarks of hypertension due to DOC-producing adrenal lesions should be aware of. We report a ...

Hypomorphic CYP24A1 protein coding mutations causing inappropriate 1,25(OH)2D concentrations are associated with idiopathic infantile hypercalcemia and adult-onset hypercalciuria and nephrolithiasis. It is unclear why some cases present with CYP24A1-mediated abnormal calcium handling lack protein-coding CYP24A1 mutations. Non-coding region mutations, e.g. the 3’ UTR, impacting messenger RNA (mRNA) structure have rarely been studied in...

Background: Advanced neuroendocrine tumors (NETs) are associated with poor prognoses. A 4-dose regimen of lutetium Lu 177 (177Lu)-DOTATATE has been shown to improve progression-free survival (PFS) and overall survival (OS) in patients with advanced NETs. This is the first United States (US) study to evaluate the effectiveness and safety of additional doses in patients with progressive NETs.Methods: This was a retrospective chart review of 31 a...

Background: Muscle weakness may persist in patients with Cushing’s syndrome (CS) long-term after resolution of hypercortisolism, but mechanisms determining this sustained impairment are not known. We hypothesized that alteration of muscle structure, due to fatty infiltration, is associated with muscle dysfunctions in these patients.Patients & methods: Twenty-six CS women [mean(±S.D.) age 49±12 years; mean(±S....

Background: Pasireotide has proven efficacy in acromegaly and CD, although pasireotide-associated hyperglycaemia occurs in some patients. This Phase IV, randomized, open-label study investigated optimal management of pasireotide-associated hyperglycaemia uncontrolled by metformin/oral antidiabetic therapy (OAD) [NCT02060383].Methods: Adults with acromegaly or CD were enrolled and treated with long-acting pasireotide 40 mg/28 days or subcutaneous pasireot...

Introduction: Pegvisomant (PEGV) is approved for the treatment of acromegaly since 2003. This is the second interim analysis of data from ACROSTUDY, with the majority of patients treated for at least five years (yrs).Methods/design: ACROSTUDY is an international, open-label, prospective, non-interventional, post-marketing surveillance study monitoring the long-term safety and efficacy of PEGV. Patients were enrolled in the study on an ongoing basis.<...

Introduction: Our institution leads a UK, multicentre, randomised controlled trial (REVISE-Diabesity ISRCTN00151053) investigating the interaction of Endobarrier therapy, a 60 cm endoscopically implanted proximal intestinal liner, with glucagon-like peptide-1 drug therapy.Aims: To evaluate whether acquired experience could translate into establishment of an effective and safe NHS Endobarrier service in patients with diabesity.Metho...

Resistance to Thyroid Hormone alpha (RTHα) is characterised by tissue-selective hypothyroidism with near-normal thyroid function tests, and is due to thyroid receptor α gene mutations. We sought to correlate the clinical characteristics and response to thyroxine treatment of two RTHα patients with the properties of their defective TRα proteins.Clinical, biochemical and physiological parameters were assessed in each patient at baseline...

Background: Patient engagement and adherence are critical to the success of clinical trials. Electronic patient-reported outcomes (ePROs) are increasingly used to evaluate diabetes clinical trial endpoints. This study characterized how subjects prefer to use various types of technology to report ePROs in a clinical trial. Considering patient preference during diabetes trial design may reduce patient burden and improve patient engagement.Methods: 102 subj...

Background: Electronic patient-reported outcomes (ePROs) are a reliable method for collecting patient data in diabetes clinical trials and offer many advantages over paper collection; however, it is essential to consider patient preference and ease of use when employing this technology. Improving the usability of ePRO in clinical trials could ultimately reduce subject burden and improve subject engagement.Methods: 102 subjects with type 2 diabetes were s...