Endocrine Abstracts

Insulinomas, although rare, cause significant morbidity. They are frequently small at diagnosis. Whilst this means they are frequently curable by surgery, it makes localisation of the tumour difficult. However the importance of accurate pre-operative localisation is essential especially since laparoscopic surgery has been developed, which allows a minimally invasive approach to be used, but makes it vital that multiple tumours are identified pre-operatively.<p class="abste...

Our previous studies of the gene responsible for the expression of pituitary GH (GH1 gene) have identified 13 novel missense mutations in 52 children with short stature and 154 controls, which occurred more frequently in patients than controls. These mutations result in expression of variant forms of GH with a single amino acid alteration that could lead to conformational changes within the protein, possibly resulting in cleavage sites hidden in wild-type GH becoming ex...

A child with short stature having height greater than 2 standard deviations below the mean for age and bone age delay of two years but with normal growth hormone secretion tests was identified. Since there was no known clinical cause of the short stature, it was decided to sequence both alleles of the patient's GH1 gene that encodes pituitary GH to determine whether there was a genetic defect responsible for the observed phenotype (with local ethical approval). A 3.2kb fragmen...

ObjectiveActive acromegaly is associated with increased mortality. While surgery is the mainstay of treatment, it is not always curative. In selected cases, CyberKnife stereotactic radiosurgery (CK SRS) can be used as adjuvant treatment in patients with persistent disease.DesignThis is a retrospective review of the biochemical and imaging characteristics for patients with active acromegaly treated with CK SRS...

Zoledronate in the Prevention of Paget’s disease (ZiPP) trial (ClinicalTrials.gov ID:NCT03859895) is a multi-centre, double-blind, placebo-controlled, randomised trial of Zoledronic acid (ZA) in sequestosome1 (SQSTM1) mutation carriers. SQSTM1 mutation has high penetrance and is associated with the early onset of Paget’s disease of bone. Participants with the SQSTM1 genotype received either a single dose of IV 5mg ZA (Aclasta, Novartis); intervention group n...

Background: Growing evidence suggests that hypothalamic lipid sensing plays a key role in controlling food intake, fat deposition and energy balance and that its dysregulation could lead to obesity and type 2 diabetes (T2D). Recent investigations reported that sphingosine-1-phosphate (S1P) is involved in the hypothalamic control of energy homeostasis. Intra-cerebroventricular administration of S1P decreased food intake and increased energy expenditure in rodents.<p class="...

Introduction: In many endocrine centres the 250μg Short Synacthen (Cosyntropin) Test (SST) is the reference standard for the diagnosis of adrenal insufficiency (AI) 1, but it is time consuming, expensive, and requires hospital attendance and venepuncture. The morning physiological peak of cortisol shortly after waking is a good predictor for a negative SST; however, a morning serum cortisol requires venepuncture. Serum cortisol and salivary cortisone correlate ...

Introduction: Corticosteroid Binding Globulin (CBG) binds >85% of plasma cortisol and modulates free cortisol levels. Observations in vitro show that CBG is cleaved by neutrophil elastase (NE), a mechanism proposed to reduce CBG binding affinity and increase free cortisol availability to inflamed tissues. However, detection of cleaved CBG in vivo in human plasma is controversial, and any influence of NE on CBG cleavage has not been tested in vivo...

Introduction: The 250µg Short Synacthen test (SST) is the reference standard for a diagnosis of adrenal insufficiency (AI) in most endocrine centres. The test is expensive and time consuming, requiring clinic attendance. We hypothesised that a cheaper home waking salivary cortisone (WSC) is predictive of the SST 30-minute cortisol >430 nmol/l cut-off and carried out a diagnostic accuracy study to assess the predictive value of the WSC in diagnosing and excluding AI. W...

Introduction: Adrenal incidentalomas (AIs) are found in ~3% abdominal scans, rising to 10% in the elderly. In 2016, the European Society of Endocrinology (ESE) published new guidance on their management.Aims & objectives: To (1) compare how AIs have been managed at the University Hospital of Wales (UHW) against ESE guidelines, and (2) provide an early evaluation of the impact of service changes implemented based on initial findings.<p class="abst...