Endocrine Abstracts

We present two cases of glucocorticoid remediable aldosteronism (GRA) diagnosed through screening the children of an affected mother.GRA is a rare inherited cause of hypertension in children. A monogenic defect produces a chimeric gene, which codes for two enzymes involved in the production of aldosterone and cortisol. This leads to adrenocorticotropin stimulated aldosterone production. GRA is thought to account for 1% of primary aldosteronism with aroun...

The distal nephron is the principal site for salt conservation in the body. Through its action on basolateral and apical membrane transporters, aldosterone regulates ion fluxes across the cells of the distal nephron. Aldosterone elicits physiological responses by modulating the expression of the transporter subunits; for example in the case of the epithelial Na+ channel (ENaC) and Na+/K+-ATPase, and also through the expression of the regulatory...

Cytosolic phospholipase A2 (cPLA2α) catalyzes the hydrolysis of membrane glycerophospholipids to release arachidonic acid, which is converted to bio-active eicosanoid lipid mediators, including prostaglandins (like PGE2) produced through cyclo-oxygenases (COX). The eicosanoid signalling contributes to cell proliferation in breast cancer, as demonstrated by numerous studies outlining a crucial role of COX-2 and PGE2 in breast carcinoma progression. The specific ...

Aldosterone stimulates the rapid phosphorylation and activation of PKD1 in a murine renal cortical collecting duct cell line (M1-CCD), through the transactivation of the epidermal growth factor receptor (EGFR). PKD1 belongs to a family of serine/threonine kinases known to be important modulators of subcellular trafficking. The epithelial sodium channel ENaC is a major effector of aldosterone action in the kidney and plays a crucial role in the maintenance of whole body sodium ...

Hypercalcaemia (calcium level >2.63 mmol/L) is a common metabolic condition. In spite of its diverse aetiologies, primary hyperparathyroidism and malignancy account for more than 90% of cases, parathyroid adenoma alone contributing to 80–85% of parathyroid related cases. We describe a case of resistant hypercalcemia in a 75-year-old Afro- Caribbean gentleman.He presented with a 2-month history of constipation, loss of appetite & gradual weig...

Introduction: Cushing’s syndrome (CS) is a rare disease that can be difficult to diagnose. 24 hour urinary free cortisol (UFC) is one of the reliable screening tests to diagnose CS. The Endocrine Society recommends against widespread screening for CS. It advises to screen those patients presenting with multiple and progressive features (easy bruising, facial plethora, proximal myopathy and striae) of CS, in addition to patients who experience unusual features for their ag...

Objective: In humans insulin-induced hypoglycaemia activates the autonomic nervous system and provokes counterregulatory hormonal responses, the magnitude of which is lower in healthy non-diabetic females and in women with type 1 diabetes compared to male counterparts, although the glycaemic thresholds at which these responses are triggered are similar in both sexes. The Edinburgh Hypoglycaemia Score (a validated method of symptom assessment) was used to examine symptoms to as...

Introduction Some published studies suggest acromegalic patients have an increased risk of colonic tumours or pre-malignant dysplastic polyps. We assessed the prevalence of colonic polyps in Oxford acromegalic patients.Methods Patient database identified all 80 acromegalic patients who had had a colonoscopy.Control Patients Our data and published data on two autopsy and eight colonoscopic screening studies in asymptomatic non-acrom...

Background: Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, suggesting that inheritance is conferred by a small number of genes. However, the underlying genetic background is mostly unknown. By comparison, many genes have been identified where loss-of-function mutations lead to hypogonadotropic hypogonadism (HH). Despite likely overlap between the pathophysiology of delayed puberty and conditions of GnRH deficiency, few studies have examine...

Autoimmune thyroid diseases (AITD), such as Graves' disease (GD) and autoimmune thyroiditis (AT), cluster within families and within individuals and exhibit a strong female preponderance. The type 1 diabetes Warren Repository was established between 1989 and 1996 and contains 505 families of British white Caucasian origin. Each family consists of both parents and at least two siblings with type 1 diabetes. We have examined the clinical data collected to establish the frequency...