Endocrine Abstracts

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Increased cardiovascular risk in hypopituitary patients was first documented by Rosen in 1990. Subsequent studies confirmed increased prevalence of cardiovascular and cerebrovascular disease in these patients. The exact mechanism for this is unclear. There is no clear consensus on how best to quantify or predict cardiac risk in hypopituitarism. QRISK2 cardiovascular disease risk algorithm provides estimates of 10-year cardiovascular disease (CVD) risk in patients...

Introduction: Patients with craniopharyngioma are characterised by a high incidence of hypopituitarism, visual failure and hypothalamic dysfunction. Standardised mortality is markedly elevated and controversy exists about optimal treatment.Aim: We aimed to examine the temporal trends in the treatment of craniopharyngioma at our centre. Also, we sought to examine treatment needs and long-term morbidity in this patient group.Methods:...

Background: The glands most commonly affected in MEN1 are parathyroid, pituitary and pancreas. Pancreatic neuroendocrine tumours (pNETs) are of foregut origin, but a number of other so-called ’foregut carcinoid tumours’ may also occur in MEN1, including tumours of bronchial, thymic, and gastrointestinal origin. Reported rates of prevalence of these latter tumours vary from 2% for thymic and bronchial carcinoids, to 10% for gastric carcinoids. Thymic carcinoids have b...

Introduction: Regimens for pre-operative α and β-blockade for patients with secretory phaeochromocytomas/paragangliomas vary widely between centres. The worldwide lack of availability of intravenous phenoxybenzamine (Goldshield) has removed a useful tool in the management of phaeochromocytoma crisis and has necessitated a change in our institution’s routine pre-operative strategy. We compare pre, peri and post-operative surrogate measures of blockade in a cohort...

Case: A 22 year-old female student presented with a history of recurrent pancreatitis since 2007. The most common causes of pancreatitis, including drugs, gallstones, corticosteroids, excess alcohol and hypertriglyceridaemia were excluded. She was noted to have elevated serum calcium, which was considered to be the cause of her pancreatitis, with a detectable serum PTH level. An initial diagnosis of primary hyperparathyroidism was made. However, two neck explorations failed to...

Objective: (1) To review normative data for catecholamines using our cohort of hyperaldosteronism patients undergoing adrenal vein sampling. This adds to the previously published data of normative values in a cohort of patients with cortisol-producing adenoma. (2) To demonstrate the usefulness of the noradrenaline to adrenaline ratio in the interpretation of adrenal venous sampling results.Design: 38 patients underwent successful, bilateral adrenal venou...

Introduction: Patients with hypopituitarism often report poor quality of life (QoL) despite adequate hormonal replacement therapy. Oxytocin, a peptide hormone produced in the hypothalamus and released by the posterior pituitary, has been known for its role in social and emotional behaviour. Our aim was to investigate the relationship between oxytocin and QoL domains in patients with hypopituitarism under optimal hormonal replacement therapy.<p class="abste...

Background: Primary aldosteronism (PA) is a common, curable and high-risk subset of hypertension, mandating detection. In all but the most severe cases, learned society guidelines recommend confirmatory testing. Whilst a variety of confirmatory tests exist, data describing their safety are limited. Concerns centre around the potential of some tests to precipitate hypokalaemia or a hypertensive emergency in a patient with PA on sub-optimal anti-hypertensive medication. In this ...