Endocrine Abstracts

Background: Preeclampsia (PE) is a multifactorial and multisystem disorder, with unknown pathophysiology, but factors such as defective trophoblast invasion and narrowing of spiral arteries may be contributing to the onset of PE and affecting mother and foetus development. Early prediction of PE may improve the surveillance and prognosis of hypertension in pregnant women in preventing associated complications. Therefore, it is essential to find markers for the detection of PE ...

The calcium-sensing-receptor (CaSR) is a G-protein-coupled receptor that plays a fundamental role in extracellular calcium homeostasis, but is also implicated in non-calcitropic disorders including colon cancer and asthma. In addition, CaSR is highly expressed in pancreatic islets where it has a role in insulin secretion. Patients with gain-of-function CaSR mutations, and mice (referred to as Nuf) with a gain-of-function CaSR mutation (Leu723Gln), develop autosomal dominant hy...

Primary hyperparathyroidism (PHP), usually due to multigland hyperplasia, occurs in >90% of patients with multiple endocrine neoplasia type 1 (MEN1). The literature is divided on the optimal surgical management for such patients. We report a retrospective cohort study on the long-term outcomes associated with limited, subtotal, or total parathyroidectomy as initial surgery for PHP in MEN1. The primary endpoint was recurrent PHP defined as an adjusted serum calcium >2.6 mmol/l ...

Introduction and aim: Pancreatic neuroendocrine tumours (PNETs) may occur sporadically (sPNETs) or as part of the multiple endocrine neoplasia type 1(MEN1) syndrome, which is characterised by occurrence of PNETs, parathyroid and anterior pituitary tumours. Our aim was to review the management of these patients in relation to the clinical practice MEN1 guidelines, and the ENETS and UKINETS guidelines for PNETs.Patients and methods: Patients attending with...

Whole genome sequencing (WGS) has the potential to identify nearly all forms of genetic variation. In complex disorders with multiple manifestations WGS can establish a definitive diagnosis that may change clinical management (Stavropoulos et al. 2016 Genomic Med). Here, we report on the utility of WGS in establishing the correct diagnosis in a family with hyperuricaemia. Hyperuricaemia may occur as: part of a syndromic disorder (e.g. Lowe syndrome, renal col...

Bartter’s syndrome (BS) and Gitelman’s syndrome (GS) are renal tubular disorders affecting reabsorption of sodium, potassium and chloride. Common clinical features include muscle cramps and weakness, hypokalaemia, hypochloraemic metabolic alkalosis and elevated plasma aldosterone concentrations. Urinary calcium excretion and plasma magnesium concentrations may be differentiating features, such that hypomagnesaemia and hypocalciuria are typical of GS, and hypercalciur...

The prolactin receptor (PRLR) is a member of the class I cytokine receptor family that signals predominantly through the JAK2–STAT5 pathway. To date, PRLR mutations have not been established to be associated with any disorders. Here, we report a PRLR mutation (His188Arg) that caused familial hyperprolactinaemia in three sisters, two of whom presented with oligomenorrhea and one with infertility. The hyperprolactinaemia was not associated with pituitary tumours, which were...

Cumulative genetic abnormalities within an oncogenic pathway may contribute to earlier onset or increased aggressiveness of cancers. An example in human and murine cancer is the dysregulation of Wnt signalling by inactivation of the adenomatous polyposis coli (APC) gene that results in accumulation of nuclear β-catenin and earlier onset of renal cell carcinoma, which can be accelerated by p53-deficiency. We therefore investigated the effects of such cumulative genetic abn...

Hypoxia is a primary stimulus for angiogenesis, which is important for tumour proliferation and survival. The effects of hypoxia on parathyroid tumour cells, which may be important for parathyroid autotransplantation in patients, are however, not known. We therefore assessed the effects of hypoxia on gene expression in parathyroid adenoma cells from patients with primary hyperparathyoridism. Cell suspensions from human parathyroid adenomas (n=5) were cultured and afte...

Introduction: Next-generation sequencing (NGS) in thyroid cancer allows for high-throughput sequencing analysis of various genetic alterations and provides a useful information of tumor biology. NGS Studies on follicular differentiated thyroid cancer have been scantyfrom Indian subcontinent. In this context, we set out study the prevalence of a genetic panel wide somatic mutations in thyroid cancer.Material and Methods: This prospective study was conduct...