Endocrine Abstracts

Adhesion GPCRs (aGPCRs) have been implicated in developmental processes and deletion of some aGPCRs in neonatal mice results in decreased β-cell differentiation capacity, leading to glucose intolerance in adult life. Here, we investigated the expression of aGPCR mRNAs in mouse islets and determined the expression and function of GPR56, the most abundant aGPCR in islets, in developing mouse pancreas. Quantitative PCR indicated that mouse islets expressed mRNAs encoding 26 ...

Primary hyperparathyroidism (PHPTH) is a common endocrine disorder and it is estimated that 10% of cases are hereditary, related to syndromes including; multiple endocrine neoplasia (MEN) type 1, MEN type 4, MEN2A and hereditary hyperparathyroidism jaw tumour syndrome. Further hereditary cases can occur in the absence of syndromic features such as familial hypercalcemia hypocalcuria. Identifying cases of hereditary PHPTH enables a personalised medicine approach. Current guidel...

We report new estimates of the disutility associated with GL and PL, and the quality of life (QoL) impact of leptin replacement therapy (LRT) based on two methods. The first approach estimates utility decrements associated with a range of impairments related to lipodystrophy through a discrete choice experiment (DCE) conducted with members of the general public; the second elicits QoL estimates from 8 PL patients using the SF-36 instrument. To characterize QoL consequences of ...

We report a case of a male patient aged 45 years who presented with a history of intermittent back discomfort over a year, but more persistent over the previous 2–3 months. His general practitioner (GP) referred him for an ultrasound of the spine for a possible encapsulated lipoma but the findings were unremarkable. He was then referred to a consultant gastroenterologist for further assessment. He had normal endoscopic examinations, however the MRI had shown a right adren...

Case history: We report a 56-year-old man who was referred to the Endocrinology Clinic with hypokalaemic hypertension. He had a history of bladder cancer 9-years previously, treated with surgery, chemotherapy and BCG therapy. At referral, he was taking Amlodipine 10 mg and Doxazosin 8 mg twice daily with average home blood pressure readings of 160/90 mmHg.Investigations: Aldosterone to renin ratio (ARR), taken on Doxazosin with potassium 3.6 mmol/l was 3...

Background: Appendiceal neuroendocrine tumours (aNETs) are usually diagnosed incidentally at appendicectomy, are indolent and rarely recur. Current ENETS guidelines inform aNETs management and highlight areas of uncertainty. We aimed to identify risk factors that predict lymph node metastasis, residual disease at completion surgery, or disease recurrence and also assessed survival according to ENETS stage.Methods: We retrospectively analysed a prospectiv...

Nocturnal salivary cortisol (NSC), urinary free cortisol (UFC) and overnight dexamethasone suppression testing (ODS) are recommended screening tests for Cushing’s syndrome (CS). Individual centers differ in their screening approach; UFC being the test of choice in Northern Ireland with ODS in patients with adrenal incidentalomas. NSC, which measures free cortisol, is not routinely used. The aims of this study were to 1. Evaluate the utility of NSC in the diagnosis of CS; ...

Introduction: Chromosome Xq26.3 microduplications have recently been identified, and explained this 11-year-old girl’s marked tall stature. Her severe phenotype illustrates X-linked acrogigantism (X-LAG) and demonstrates therapeutic benefit from growth hormone receptor blockade.Case: A 5.6-year-old girl presented with growth acceleration from 3 years and appearance of secondary dentition, greasy skin and blackheads from age 4. Past medical and famil...

Failure of trophoblast invasion and remodelling of maternal blood vessels leads to the pregnancy complication pre-eclampsia (PE). Metabolomic profiling of placentas from such pregnancies has identified deranged sphingolipid metabolism as one of the pathways altered in PE. In other systems, the bioactive sphingolipid, sphingosine-1-phosphate (S1P) controls cell migration therefore this study aimed to determine its effect on extravillous trophoblast (EVT) function.<p class="...

Diabetes mellitus is currently being recognised as a global health problem. The likelihood of periodontal disease among diabetics is thrice and progresses rapidly when uncontrolled. Diabetics were less likely to see a dentist than to seek consult with a doctor for diabetes care. A cheap and easy way of clinical assessment via self-reported oral health questionnaire would be of great use especially in a developing country like The Philippines. This study aims to validate self-r...