Endocrine Abstracts

Introduction: Germline mutations in succinate dehydrogenase subunit B (SDHB) are one of the commonest findings in familial paraganglioma (PGL) syndromes and account for one quarter of PGLs associated with germline mutations. Although the penetrance is low, the malignancy conversion is high; up to 30%. With the increasing availability of genetic testing and the identification of ‘asymptomatic carriers’ of the SDHB gene mutation, it is therefore impor...

Introduction: Phaeochromocytoma localisation is generally reliably achieved with modern imaging techniques, particularly in sporadic cases. Diagnostic doubt can arise due to the presence of bilateral adrenal abnormalities, particularly in patients with mutations in genes predisposing them to the phaeochromocytoma development. In such cases, surgical intervention is ideally limited to large or functional lesions due to the long-term consequences associated with hypoadrenalism. ...

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...

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...

Mutations in the co-chaperone molecule AIP account for a predisposition to pituitary tumours in some families with familial isolated pituitary adenomas (FIPA). We now report on four apparently-unrelated families with the same mutation and originating from the same geographical area, suggesting a possible founder mutation.The index patient had gigantism (19 years, 208 cm) and had a female 4th cousin, once removed (13 years, 191 cm) with a large pituitary ...

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...

Background: Cyclical Cushing’s syndrome has been considered to be a rare clinical entity, characterised by periodic increases in cortisol levels followed by regression of the Cushing’s syndrome. The cycles of hypercortisolism may occur before the establishment of the diagnosis, rendering actual diagnosis difficult, or may occur after inadequate or ineffective treatment and affect disease management. The aim of this study was to investigate the prevalence of cyclicity...

Inherited growth hormone insensitivity (GHI) is usually caused by mutations in the GH receptor (GHR). Patients present with short stature associated with a mid-facial hypoplasia (Laron facial features) or with normal facial appearance. We previously described an intronic mutation in the GHR gene (A−1 to G−1 substitution in intron 6) resulting in the activation of a pseudoexon (6Ψ) in four related GHI patients with normal facial fea...

Medullary thyroid carcinoma (MTC) is a rare malignancy which has often metastasised at time of diagnosis. Surgical resection represents the only prospect for cure. However, debulking neck surgery may be beneficial in advanced cases. Prophylactic surgery is increasingly undertaken in asymptomatic patients with known mutations in the RET oncogene. The aim was to describe the outcome following initial surgical treatment for MTC at our institution. We performed a retrospe...