Endocrine Abstracts

Background and aims: 5α reductase 1 and 2 (SRD5A1 (expressed in liver and adipose), SRD5A2 (expressed in liver) inactivate cortisol to 5α-dihydrocortisol in addition to their role in the generation of dihydrotestosterone and therefore regulate the tissue availability of cortisol. Dutasteride (dual SRD5A1 and SRD5A2 inhibitor) and Finasteride (selective SRD5A2 inhibitor) are commonly prescribed, but their potential metabolic effects have only recently been identified....

Introduction: Phaeochromocytoma localisation is generally reliably achieved with modern imaging techniques, particularly in sporadic cases. Diagnostic doubt can arise due to the presence of bilateral adrenal abnormalities, particularly in patients with mutations in genes predisposing them to the phaeochromocytoma development. In such cases, surgical intervention is ideally limited to large or functional lesions due to the long-term consequences associated with hypoadrenalism. ...

Context: Differentiating adrenocortical adenoma (ACA) from adrenocortical carcinoma (ACC) represents a continuous challenge in patients with (often incidentally discovered) adrenal masses, with unfavorable sensitivities and specificities provided by tumor size, imaging and even histology. We have previously developed urine steroid metabolomics as a tool for the detection of adrenal malignancy employing gas chromatography mass spectrometry (GC-MS) for the detection of 32 distin...

Background: The UK acromegaly register reported that <60% of acromegalics on medical therapy had controlled disease (1). This is because many patients do not respond to somatostatin therapy. Pegvisomant, a growth hormone antagonist (GHA), controls disease in >95% cases, but is not cost-effective and requires high dose daily injections (2). There is therefore an unmet need for a cost-effective GHA. We have developed a fusion technology for making a cost-effective long-a...

Diabetes mellitus (DM) is associated with an increased risk of fractures in excess of what would be expected from age and BMD. Further, DM is associated with increased risk of mortality in patients with hip fractures and possibly also other osteoporotic fractures.Study population and methods: Patients aged 50 or over who were treated for fractures of the hip, forearm, humerus and spine over 6 years (2004–2009, n=146 256) not coded as road t...

There are currently no curative treatments for metastatic pancreatic neuroendocrine tumours (PNETs), and the 5-year survival is <50%. Such tumours frequently have mutations in chromatin remodelling genes as well as the protein encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, menin, which is mutated in up to 40% of sporadic PNETs, and binds the histone methyltransferase MLL1. Histone modifications, and specifically acetylated residues on histone tail...