Endocrine Abstracts

Adamantinomatous craniopharyngiomas (ACPs) are among the most common intracranial tumours in children and they originate from undifferentiated pituitary progenitors. Mutations in the gene encoding for β-catenin (CTNNB1), which lead to the constitutive activation of the Wnt/β-catenin signalling pathway, have been associated with ACP. These tumours can invade adjacent structures, such as the hypothalamus, which makes comp...

Objectives: The crystal structures of the TSH receptor (TSHR) leucine rich repeat domain (LRD) bound to TSHR stimulating monoclonal autoantibody M22TM or to TSHR blocking monoclonal autoantibody K1-70TM and antibody free have been solved previously. Cryo-electron microscopy (cryo-EM) was now used to solve the structure of full length TSHR in complex with K1-70TM.Methods: Recombinant human TSHR expressed in CHO cells was i...

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: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...

Introduction: Patients with the familial cancer syndrome von Hippel–Lindau disease (VHL) are enrolled in radiological screening programmes which aim to identify tumour development at an early stage. This facilitates timely intervention to lesions when the risk of metastatic spread is low and when they are conducive to less-invasive and parenchymal-sparing interventions, thereby minimising treatment-related morbidity. A number of international screening protocols exist, al...

Background: ACROSTUDY is an open-label, non-interventional post-authorization safety study that began in 2004 to evaluate safety in at least 1000 acromegaly patients treated with the GH receptor antagonist pegvisomant (PEGV). This commitment was fulfilled in Jan 2013. ACROSTUDY was later amended to enroll an additional 110 patients that were naïve/semi-naive to PEGV treatment. Semi-naïve patients are defined as not having received PEGV therapy for at least 6 months p...

Cellular reprogramming describes the process where a fully differentiated, specialized cell type is induced to transform into a different cell. Cell reprogramming techniques can become powerful tools for modelling diseases, drug testing and for personalized cellular therapy. The adrenal cortex is the primary site of steroid synthesis. Adrenal insufficiency, which can be life threatening, is caused by a number of adrenal disorders, and lifelong management of these patients with...

Objective: Prospective evaluation of the relationship between first morning urinary gonadotrophins (uGn) measured by immunoassay and corrected for creatinine (uLH:uCr and uFSH:uCr), and basal serum gonadotropins (sLH and sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients receiving GnRH analogue (GnRH-a; decapeptyl SR, 11.25 mg, every 10–12 weeks).Methods: Enrolled 15 (12M) patients evaluated for delayed p...

Background: Lifestyle modification is fundamental to obesity treatment, but few studies have described the effects of structured lifestyle programmes specifically in bariatric patients. We sought to describe changes in anthropometric and metabolic characteristics in a cohort of bariatric patients after participation in a nurse-led, structured lifestyle programme.Methods: We conducted a retrospective, observational cohort study of adults with a BMI ≧40...

Objective: The pathophysiology of the increased fracture risk in Type 1 Diabetes (T1D) remains unclear. Given that childhood and adolescence are important physiological periods for optimal bone development, we performed a multimodality assessment to determine the effects of T1D on bone health.Methods: Thirty two affected children at a median (range) age of 13.7 years (10.4, 16.7), were recruited for detailed assessment of bone health. Serum bone alkaline...