Endocrine Abstracts

Introduction: The provision of out-of-hours (OOH) care for hospital inpatients is currently a hot political topic with aspirations for ‘seven day working’ and earlier specialist involvement. Care for patients with diabetes or endocrine problems OOH (which accounts for 75% of each week) is variable and often falls as a default to the general medical team. Our centre (over 1000 beds, all major specialities) has, for many years, provided a 24/7 service for GPs and hospi...

Primary aldosteronism (PA) is an important cause of hypertension which confers significant cardiometabolic risk. In approximately half of cases, the cause is a surgically resectable unilateral aldosterone-producing adrenal adenoma, making PA the most common potentially curable form of hypertension. Despite this, long-term data on surgical outcomes that could be used to guide discussions with patients are sparse. Here, we report on clinical outcomes several years post-adrenalec...

Objective: Succinate dehydrogenase B (SDHB) germline mutations are associated with predominantly extra-adrenal paraganglioma (PGLs) and high rates of metastatic disease. Bladder paragangliomas are a rare form of chromaffin cell tumours arising from the bladder wall. The aim of the study is to highlight the preponderance of bladder paragangliomas associated with SDHB gene mutations.Design: Retrospective case series.Patients: Five of...

Objective: The aim of the study was to describe the surgical management of phaeochromocytomas and paragangliomas which lie in close proximity to or involve the great vessels including the aorta and vena cava.Design: Retrospective case-series. Patients: five subjects undergoing surgical excision of either a phaeochromocytoma or paraganglioma involving the great vessels seen at St Bartholomew’s Hospital, UK (2004–2013).Meas...

Background: The low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l (0.5 mg 6 hrly × 48 hrs) comes from a time when biochemical auto analysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s disease (CD) suppressed to <50 nmol/l at 48 hrs. Many clin...

Background: Fetal glucocorticoid overexposure is associated with low birthweight and increased cardiovascular disease risk in the offspring. Such ‘programmed effects’ can be transmitted across generations through both male and female lines. Disruption of a germline epigenetic reprogramming pathway, characterised by genome-wide erasure and subsequent re-establishment of DNA methylation, may underpin the intergenerational transmission of programmed effects. We used a r...

While pituitary adenomas (PA) usually occur as a sporadic disease, an increasing number of patients are recognised with a family member also suffering from a PA. If no other syndromic features are present, these families are categorised as FIPA. In published studies, 20% of the FIPA families, 20% of sporadic childhood and 13% of sporadic young-onset (≤30 years) acromegaly patients carry a germline AIP mutation. As familial disease is more aggressive, family scre...

Fetal Leydig cell (LC) dysfunction leads to human male reproductive disorders (‘testicular dysgenesis syndrome’; TDS) that manifest at birth (cryptorchidism, hypospadias) or in young adulthood (low sperm count, testicular germ cell cancer). The factors regulating fetal LC function in early gestation are unknown, but can be disrupted in rats by environmental chemicals (e.g. dibutyl phthalate (DBP)). We identify a novel repressor mechanism that explains this vulnerabil...

Introduction: Hypercortisolaemia is characterised by an increased risk of cardiovascular disease (CVD), either through a direct action on the myocardium or by affecting traditional cardiovascular risk factors. The electrocardiogram (ECG) is the initial examination to assess the structural and functional characteristics of the myocardium.Aim of the study: To investigate whether the metabolic and cardiovascular features of Cushing’s disease (CD) are a...

Introduction: Using discriminant analysis, a method based on two growth hormone (GH) dependent markers, insulin-like growth factor-I (IGF-I) and pro-collagen type III N-terminal peptide (P-III-P) has been devised to detect exogenously administered GH. It is believed that GH is a popular substance of abuse amongst adolescent athletes. As previous studies on the detection of GH abuse involved predominantly adult athletes, it is necessary to validate the method in adolescent athl...