Endocrine Abstracts

Von-Hippel-Lindau syndrome (VHL) is an autosomal-dominant disorder associated with CNS haemangioblastomas, phaeochromocytomas, renal carcinomas and retinal haemangiomas. We present the case of a 33-year-old woman with VHL who developed clinical progression of a CNS lesion during pregnancy. The patient had undergone removal of a cerebellar haemangioblastoma at age 18, and bilateral phaeochromocytomas were removed at age 27. The only other abnormality on regular review was a mix...

We present the case of a 76 year old woman who was admitted to our hospital with severe Cushings syndrome, in association with hair loss and hypokalaemia. Plasma cortisol levels were elevated, and did not suppress with high dose dexamethasone. ACTH levels were detectable throughout the HDDST. MRI pituitary and CT adrenals were normal, but CT of chest revealed an area of nodularity in the right lung. With no specific treatment her symptoms settled, and her biochemistry returned...

There is a significant body of research that demonstrates an association between central (visceral) obesity, insulin resistance, endothelial dysfunction and accelerated atherosclerosis, but the molecular mechanisms underlying this link are incompletely understood. In cultured human aortic endothelial cell (HAEC) models, insulin stimulates an intracellular signalling cascade resulting in activating phosphorylation of Insulin Receptor Substrate-1, Protein kinase B (PKB/Akt) and ...

Autoimmune hypophysitis is a rare cause of pituitary failure. It’s aetiology and natural history are not well understood. We present a case of pituitary failure that showed spontaneous resolution of radiological and clinical features, consistent with autoimmune hypophysitis.Case report: An 18 year old male presented with a 7 month history of polyuria and headaches. No significant past medical history or family history were noted. A water deprivation...

We present two cases of postmenopausal, gonadotrophin-dependent androgen excess.Case 1: A 59-year-old postmenopausal female presented with a 4-year history of hirsuitism and male pattern balding. Past medical history included Type II diabetes, hypertension, and polycystic ovarian syndrome. Investigations revealed androgen excess (testosterone 8.9 nmol/l [ref range<2.5], free androgen index 31.8 [ref 0-7], androstenedione 13.7 nmol/l [ref<6.8], DH...

Insulin resistance states are associated with endothelial dysfunction, but the molecular mechanisms underlying this association are incompletely understood. Impairment of insulin stimulated endothelial NO production is proposed to be a key mechanism in this process. In cultured human aortic endothelial cell (HAEC) models, insulin stimulates an intracellular signalling cascade resulting in activating phosphorylation of Insulin Receptor Substrate-1 (IRS-1), Protein kinase B (PKB...

Background: An elevated plasma aldosterone to renin ratio (ARR) is widely accepted as being important for the detection of primary hyperaldosteronism. The ability to measure renin at extremely low concentrations is the most critical factor in determining the diagnostic reliability of the ARR. We carried out this study to establish a reference interval for the ARR as part of an evaluation of a new automated platform for the simultaneous measurement of aldosterone (PAC) and dire...

Background: Recommendations for the diagnosis of phaeochromocytoma are based on individual institutional experience but have traditionally advocated concurrent measurement of urine and plasma catecholamines. However, reports of phaeochromocytoma presenting with normal catecholamines suggest that this practice is insufficiently sensitive. In phaeochromocytoma there is an increased output of metadrenaline metabolites with a disproprtionate increase in the unconjugated form and e...

BackgroundPatients with Growth Hormone Deficiency (GHD) are known to have an excess risk of vascular disease. Previous work has shown an increase in their arterial stiffness. The effect of GH on blood pressure is still unclear.Materials and Methods16 patients with GHD (6 males) and no history of existing vascular disease or hypertension, between the ages of 18 and 65 were recruited (mean 45.4 plus/minus 3.5 y...

Introduction. As for many minor metabolites of steroids, no authentic standard is commercially available for 18-OH-THA. This compound is the principal urinary metabolite of 18-hydroxycorticosterone, a putative intermediate in the synthesis of aldosterone and of diagnostic value in screening for hypermineralocorticoidism. Since de novo synthesis is time-consuming and expensive, we tested the possibility of using beta-cortol, which produces an ion at m/z 457 in common wit...