Endocrine Abstracts

Introduction: Genetic projects, such as 100KGenomes, are identifying a vast amount of genetic variants that require interpretation. Several variants lack sufficient evidence to be classified as neutral or damaging. Such variants are annotated as ‘unclassified’ and interpretation of their biological effect is of paramount importance, but remains a major challenge. Variant predictors are widely used to prioritize variants for further studies...

Introduction: Genetic projects, such as 100KGenomes, are identifying a vast amount of genetic variants that require interpretation. Several variants lack sufficient evidence to be classified as neutral or damaging. Such variants are annotated as ‘unclassified’ and interpretation of their biological effect is of paramount importance, but remains a major challenge. Variant predictors are widely used to prioritize variants for further studies...

Objective: To determine the incidence of osteopaenia and osteoporosis in primary hyperparathyroidism.Methods: Retrospective review of 80 patients with primary hyperparathyroidism; Bone densitometry of the femoral neck, lumbar spine and distal ulna was assessed by dual energy X-ray absorptiometry (DEXA) at the time of diagnosis.Results: The median age at diagnosis was 68; The male: female ratio was 1:3; osteoporosis was present in 2...

Besides playing a role in energy homeostasis, orexins have been reported to have divergent effects on physiological behaviour, cardiovascular regulation, glucocorticoid release, as well as playing a key role in the aetiopathogenesis of narcolepsy. Recent studies using rodent models suggest orexins may also be involved in the regulation of thermogenesis. For example, mice lacking the prepro-orexin gene are significantly hypophagic but have normal body weight suggesting differen...

Limited data exist describing direct volumetric measures of BMD (g/cm3) in adults with severe GHD or GH-insufficiency. We measured BMD in 30 GHD adults (peak GH to stimulation <3 mcg/l), 24 GH-insufficient adults (GHI, pGH 3 - 7 mcg/l), and 30 age/gender matched control subjects by DXA and pQCT.DXA performed at the lumbar spine, femoral neck, and total hip confirmed GHD adults to have reduced BMD (g/cm2) at all sites (p = 0.05, p...

Objectives: Considerable evidence shows that increased serum calcium levels are associated with metabolic disorders, cardiovascular disease and increased mortality. This study investigated whether serum calcium, within a normal range, is significantly associated with serum fibrinogen and homocysteine, markers of increased cardiovascular disease risk in non-diabetic Korean subjects.Methods: A cross-sectional analysis was performed on 1096 subjects (mean a...

Obesity is a risk factor for the metabolic syndrome and type 2 diabetes. Adiponectin, a 30 kDa peptide secreted from adipocytes has been shown to be anti-atherogenic, and anti-inflammatory, as well as affecting insulin resistance and pancreatic beta-cell function. This study investigated the levels of expression of the adiponectin receptor subtypes 1 and 2 (AdR-1 and AdR-2) and regulation of their expression in the pancreatic BRIN-BD11 beta-cells line. Cells were cultured in R...

Low endogenous testosterone is associated with atherosclerosis in elderly men. The aim of this study was to examine the role of the androgen receptor (AR) in the development of atherosclerosis and determine whether an inactive AR coupled with testosterone deficiency, inherent to the testicular feminised (Tfm) mouse, is associated with atherosclerosis following cholesterol feeding compared to surgically-castrated male littermates with AR intact.Ten-week-o...

We have previously shown that Tfm mice which have a non-functional androgen receptor (AR) and low endogenous levels of testosterone exhibit increased fatty streak formation within the aortic root. The aim of the present study was to administer varying degrees of testosterone to these animals in comparison to littermate controls to determine the role of the AR in the anti-atherogenic action of testosterone.Eight-week-old Tfm mice (n=24) and XY litt...

Cardiovascular disease is the major cause of mortality in women with Turner Syndrome(TS), and may be congenital or acquired. There is a high prevalence of risk factors for ischaemic heart disease(IHD) including hypertension, dyslipidaemia, diabetes and obesity. This oestrogen dose-ranging vascular physiology study compared women with TS (n=14) and 46,XX gonadal dysgenesis(GD) (n=11) to determine the relative contributions of oestrogen deficiency and genetics, and to assess the...