Endocrine Abstracts

Objective: This study aimed to characterise the relationship between immune checkpoint inhibitors (ICIs), which are commonly used to treat cancer, and thyroid dysfunction in terms of the proportions affected, timing of onset, sequalae and risk factors.Design: Retrospective cohort studyMethods: Patients with normal baseline thyroid function who received an ICI were included. Proport...

Background: Plasma normetanephrine levels are an annual screening tool for detecting paragangliomas in SDHB mutation carriers. Sensitivity is increased when patients are fasting and recumbent prior to phlebotomy, to allow use of age-adjusted reference ranges rather than the 1180 pmol/l upper limit for ambulatory patients of any age. We present our clinic’s results of samples taken after 30 minutes of recumbency to determine if applying age-adjusted ranges...

Ovarian cancer is one of the major cause of death among women worldwide with high incidence. Ovarian cancer can be categorized into epithelial, non-epithelial (germ cell and sex cord-stromal cell), and metastatic (usually develop from surrounding cancerous organs). Recently, several approaches have been studied to control ovarian cancer at the transcriptional or post-transcriptional levels using small non coding RNAs including microRNAs. We carried out a meta-analysis of previ...

Introduction: Prostate cancer is the most prevalent malignancy affecting Western males. Initially an androgen-dependent disease, androgens bind to the androgen receptor and drive expression of genes that promote proliferation and evasion of apoptosis. Although advanced disease involves reduced androgen dependence, androgen receptor signalling remains a key driver of growth. Androgen deprivation therapy (ADT) is first line, but resistance inevitably develops. A...

Neuroendocrine cancers represent the tenth most prevalent type of cancer in England. However, people with neuroendocrine cancer currently face significant inequities throughout the entire care pathway – from suspected cancer to follow-up care. Despite expert clinical guidelines, there is no currently available national Neuroendocrine Cancer Patient Referral and Care Pathway. Guiding principles of optimal patient pathways include the promotion of earlier, accurate diagnosi...

Background: Prevalence of neuroendocrine neoplasms is increasing and multidisciplinary approach is mandatory. This study aimed to assess the outcome of patients with gastroenteropancreatic neoplasms (GEP NEN) presenting in a tertiary endocrine center.Methods: Retrospective study on 36 patients (16 M/20 F) with pathology confirmed GEP NEN, aged 51.9 ± 12.7 years. Serum chromogranin A, serotonin, neuron-specific enolase...

Background: Establishing a genetic diagnosis in patients presenting with potential monogenic endocrine disorders can provide benefits for the individual and wider family. Next-generation sequencing (NGS) gene panels provide a time- and cost-efficient platform for testing. A Scottish NGS endocrine testing platform, comprising 30 genes (11 individual panels), was established in 2018. A national genomic test-directory provides eligibility criteria for testing, bu...

Background: CAYA cancer survivors who received cranial radiotherapy have an increased risk of stroke. Traditional cardiovascular disease (CVD) risk factors likely contribute, but there are no guidelines for management of stroke risk in this population. It is unclear how general CVD risk calculators (QRISK3, Framingham Risk Score) compare to specific cancer survivors scores such as the Childhood Cancer Survivors Study Stroke Risk Calculator (CCSS).<p class=...

Introduction: Genetic testing for Familial Endocrine Syndromes has an important role in diagnosis, timing/extent of surgery, and follow-up. Our survey explored experiences and attitudes towards genetic testing in the UK and Abroad.Methods: Attendees of 2022 Conferences of ESES, BSPED, SfE, BAETS and AsianAES were asked to participate in an online survey (31 questions on demographics; genetic testing availability and expe...

Paraganglioma syndromes (PGL) encompass a diverse group of rare neuroendocrine tumours that are characterised by hereditary predisposition and present unique diagnostic and management challenges. We performed an audit to assess the prevalence, presentation, testing, diagnosis, and treatment of these patients. We did a retrospective analysis of the genetic database and medical records of PGL patients diagnosed and managed at our hospital up till April 2023. A total of 119 cases...

Castration-resistant prostate cancer (CRPC) is an androgen-independent subtype of prostate cancer (PCa) that develops in response to androgen deprivation therapy (ADT). In some advanced CRPC cases, tumors can develop the neuroendocrine (NE) phenotype and progress towards an aggressive PCa subtype known as treatment-induced NE PCa (NEPC), which is characterized by an increase in the population of NE cells that secrete neuropeptides promoting cancer progression. A key player in ...

A 34-year-old was referred for a second opinion regarding his incidental mild hypercalcemia ranging between 2.56 mmol/l and 2.88 mmol/l, with a corresponding PTH ranging between of 3.3 pmol/l and 6.8 pmol/l (laboratory reference range 1.3-9.3 pmol/l). He did not have a history of renal calculi or fractures. He reported chronic recurrent diarrhoea, weight loss, low mood and chronic headache. There was no known family history of calcium disorders. His examination did not reveal ...

Introduction: Multiple endocrine neoplasia, type 2A (MEN 2A) is a hereditary syndrome characterized by medullary carcinoma of the thyroid, pheochromocytoma, parathyroid hyperplasia or adenomas due to mutation in RET oncogene on chromosome 10. Complications can occur as a result of ectopic ACTH causing Cushings syndrome. We present here a case initially presenting to hospital with worsening shortness of breath on a background of metastatic medullary thyroid can...

Background: Phaeochromocytoma and paraganglioma (PPGL) are highly heritable, with 30-40% due to a germline pathogenic variant. An additional 40% of tumours will harbour a somatic variant. Understanding the variant status of a tumour enables molecular classification. Liquid biopsy offers a novel approach to non-invasive diagnostics by harnessing the ability to detect small amounts of circulating-free DNA (cfDNA) and performing genomic sequencing. There are few ...

Thyroglossal duct cysts are the most frequently occurring congenital cervical anomaly, however the development of Papillary Thyroid Cancer (PTC) in these are very rare, with an incidence around 1%. We present two cases of PTC identified in thyroglossal duct cysts from our services. A 26-year-old lady with a 1-year history of midline neck swelling, was investigated with a neck ultrasound which showed a 2.8cm septated thyroglossal duct cyst and U2 thyroid cyst. She underwent a F...