Endocrine Abstracts

Epigenetic reprogramming including altered transcription factor binding and altered patterns of chromatin and DNA modifications are now accepted as the hallmark of aggressive cancers. We show that global changes in chromatin structure and chromatin accessibility in prostate tumour tissue can define castrate-resistant prostate cancer and be used to inform the discovery of gene-level classifiers for therapy. In addition, we show that the androgen receptor overexpression alone, w...

Introduction: Primary and secondary hyperparathyroidism may coexist unrelated to chronic nephropathy. It can occur more often than expected, especially in elderly population with malabsorption syndrome or /and liver diseases.Case report: A women 60 years of age was admitted to hospital due to long standing ostealgia. The primary hyperparathyroidism was suspected. The medical history presented recently diagnosed coeliac disease and cryptogenic hepatic cir...

Autoimmune hypothalamitis has been implicated in idiopathic central diabetes insipidus (DI) due to antibodies against vasopressin producing hypothalamic cells. Lymphocytic infiltration of hypothalamus has been reported in patients with lymphocytic hypophysitis (LH) manifesting as hypopituitarism with DI. These patients can also have other associated autoimmune diseases. Here, we report a case of a male patient who presented with headache, poor orientation, partial hypopituitar...

Background: Literature suggests that whole glucose excursion, rather than plasma glucose concentration at a point, provides more information about glucose tolerance. The glucose area under the curve (AUC) is an index of whole glucose excursion after glucose load. We sought to investigate changes in insulin and glucose homeostasis, including the glucose AUC, 5 years after bariatric surgery.Method: A non-randomised prospective study of 18 participants with...

Background: Bariatric surgery aims to decrease cardiovascular risk factors. The Swedish Obese Subjects study reported that bariatric surgery was associated with reduction in long-term cardiovascular (CV) event. However, uncertainty remains regarding the effect of bariatric surgery on long-term CV risk. One way to predict long-term CV risk after bariatric surgery is to use cardiovascular risk assessment models.Aim: The aim of this study is to investigate ...

There is a growing body of literature indicating that circadian mechanisms regulate metabolism in adipose tissues. Genes encoding the core circadian regulatory proteins (CCRP) display a robust oscillatory expression profile in murine adipose tissue depots, as well as the bone, liver, and heart. Temporally restricted food access as well as photic stimuli can entrain the CCRP expression. In murine models, deletion or mutation of the CCRP genes, clock and PPAR gamma coa...

We have used an androgen receptor knockout (ARKO) mouse model with an in-frame deletion of the 2nd zinc finger of the DNA binding domain, which abolishes the genomic actions of the AR to investigate androgen regulation of fat mass. At 12 weeks of age, ARKO males have increased adiposity compared to wildtype (WT) males, with subcutaneous fat mass increased by 75% (P<0.001, n≥17/group) and infrarenal fat mass increased by 36% (P<0.05, n&...

Introduction: Testicular germ cell tumours are the most frequent cancer of young men. Epidemiological and clinical data have suggested that fetal or perinatal exposure to environmental endocrine disruptors (EEDs) with estrogenic effects, could participate to testicular germ cell carcinogenesis. However, EEDs (like bisphenol A (BPA) are often weak ligands for classical nuclear estrogen receptors.Using a human seminoma cell line (JKT-1), devoid of ERα...

The calcium-sensing receptor (CaSR) belongs to family C of G-protein coupled receptors (GPCRs) that bind glutamate, GABA, taste molecules and pheromones. Loss-of-function mutations of the CASR gene located on chromosome 3q21–24, cause familial benign hypocalciuric hypercalcaemia type 1 (FBHH1). The genes causing FBHH2 and FBHH3, whose chromosomal locations are on 19p and 19q13.3, respectively, remain unknown. FBHH3, sometimes called the Oklahoma variant (FBHHO...

Progressive osseous heteroplasia (POH, MIM 166350) is a rare autosomal dominant disorder characterised by extensive dermal ossification during childhood, followed by widespread heterotopic ossification of skeletal muscle and deep connective tissue. Recently, genetic basis was found to be common with Albright’s hereditary osteodystrophy (AHO) (Shore et al., 2002): paternally inherited inactivating mutations of the GNAS1 gene were found. GNAS1 is the ge...