Endocrine Abstracts

We report the long-term progress of a 51-year-old female with Lynch syndrome, who presented in 2015 with Cushing’s disease secondary to a constitutional pathogenic MSH2 splice site variant. 1 Transsphenoidal surgery was followed by gamma knife radiotherapy 6 months later due to persistent hypercortisolism. Radiotherapy resulted in remission, with adrenocorticotrophic hormone (ACTH) deficiency noted 2 years postoperatively. MRI pituitary 3.5 years after...

Background: Sarcoidosis is an immune-mediated multisystem condition of unknown etiology, characterized by non-caseating granulomatous inflammation. While it commonly affects lungs and the reticuloendothelial system, it can affect any organ. Central nervous system involvement is found in 5-15% of cases, with less than 1% experiencing symptoms related to hypothalamic-pituitary dysfunction. Neurosarcoidosis primarily targets the leptomeninges, leading to infiltration of the hypot...

Aim of the audit: Guidelines recommend screening for carcinoid heart disease (CaHD) in patients with carcinoid syndrome (CS) using 5-hydroxyindoleacetic acid (5HIAA), NT-pro BNP and Echocardiogram. We audited patients with CS for these parameters and gathered information related to social deprivation.Objectives: To ensure that the CS diagnosis was confirmed biochemically, assessment of social deprivation, review of waiting times, audit of echocardiogram ...

Efnb2 plays an integral role during mouse development, specifically in angiogenesis and stem cell regulation. Efnb2 encodes for Ephrinb2 ligand that binds to Eph receptor. Preliminary data suggest implications of Efnb2 in pituitary tumors. The involvement of Eph:Ephrin signaling pathway in pituitary development is currently unknown. Better knowledge of Efnb2 in the pituitary will improve the understanding of endocrine disease. Therefore, a pituitary-...

Background: The neuropeptide kisspeptin is a critical endogenous activator of the reproductive system, with escalating clinical interest as a novel therapeutic agent for reproductive and psychosexual disorders. However, conflicting animal data suggest that kisspeptin can have anxiolytic, neutral, or anxiogenic effects. Given the rapid development of kisspeptin-based therapeutics, it is important to clarify kisspeptin’s effects on psychometric measures of anxiety and assoc...

Introduction: Adipsic arginine vasopressin deficiency (AAVP-D) is rare, accounting for ~100 cases in literature. It poses multiple therapeutic challenges, with increased morbidity and mortality. We discuss an interesting case of AAVP-D, and the importance of careful management and follow-up.Presentation: 24-year-old female underwent debulking of recurrent central neurocytoma. Post-operatively, she developed new confusion with hypernatraemia (171 mmol/l) ...

Paraganglioma is a rare neuroendocrine tumour. There are few case reports in the literature describing vaginal paraganglioma to date. We present the case of a 37-year-old female referred to endocrinology services with symptomatic hypertension, initially noted during her first pregnancy three years prior. This was on a background of a vaginal paraganglioma diagnosed in 2006 which was excised by gynaecology services without complication. Her first pregnancy in 2021 was notable f...

22 yr old male pt known case of ulcerative colitis and CVST, presented with diarrhoea, abdominal pain and left lower limb swelling. DVT was confirmed on doppler. During admission he suffered from UC flare up and developed toxic megacolon with perforation. An emergency laparotomy was performed, also an IVC filter was placed due to ongoing DVT. Medication history includes sertraline, clexane, fostair, adalimumab. During ITU admission, Pt was found to have increased urine output ...

Duodenopancreatic neuroendocrine tumours (dpNETs) affect more than 90% of patients with Multiple Endocrine Neoplasia type 1 (MEN1) by age of 70. Insulinomas are the second most common functioning dpNET encountered in this setting. We present the case of a 56 year-old woman with genetically confirmed MEN1 in whom non-functioning pNETs transformed into insulinomas, seven years after being diagnosed with MEN1 syndrome and pNETs. The patient was referred to the neuroendocrine clin...

Background: The hormone cortisol is both induced by and is a biomarker of stress. However, its long-term measurement in blood and urine is limited by feasibility of collection. Hair is a novel matrix to measure long-term steroid levels. We developed a liquid chromatography-tandem mass spectrometry (LC/MS) method to assess hair cortisol in individuals at ultra-high risk (UHR) for psychosis as a biomarker of stress.Method: Hair samples from 10 UHR individu...

Limited data are available on the effect of transsphenoidal surgery using the endoscopic method on pituitary function. In this preliminary report we retrospectively evaluated the frequency of pituitary failure and recovery in a population of patients who underwent this procedure over a 12 months period. 42 (21 women) consecutive adult patients were included. 29 patients had non-secretory pituitary neuroendocrine tumours, the rest had secretory tumours and other non-adenomatous...

Functioning gonadotroph adenomas (FGAs) are rare pituitary tumours which express and secrete biologically active gonadotrophins or their subunits. The exact prevalence is unknown. Several syndromes have been recognised in different subgroups including hypogonadism, precocious puberty, ovarian hyperstimulation, and elevated serum testosterone with testicular enlargement. Transsphenoidal surgery is the treatment of choice and definitive diagnosis is made on subsequent histopatho...

We describe the presentation of a 65 years old lady with upper gastrointestinal bleed to Altnagelvin Area Hospital in April 2023, eventually diagnosed with Cushing’s syndrome due to ectopic ACTH secretion from a high grade neuroendocrine tumor. Acute presentation was preceded by three months of general decline, weight loss, poor appetite and a history of smoking 20 cigarettes per day for more than 20 years. On examination, she was cachectic and delirious with cutaneous no...

Background: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours managed with pre-operative alpha+/- beta blockade prior to surgery. These patients are at risk of intra-and postoperative haemodynamic instability. The aim of this project was to review the outcomes of PPGL patients operated on between 2018-2023 at Cardiff and Vale UHB.Methods: Retrospective case notes (n = 29) review for data collection on baseline demograp...

Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours, the majority of which secrete excess catecholamines resulting in significant hypertension and tachycardia. Pre-operative blood pressure control with alpha-adrenoceptor blockade is therefore implemented. The aim of the study was to assess the pre-, intra- and post-operative outcomes of patients undergoing outpatient alpha-blockade in our centre. A retrospective chart analysis was conducted on patients w...

Introduction: Pheochromocytoma is a rare neuroendocrine tumour, commonly diagnosed between ages 40 and 50, typically presents with hypertension, palpitations, and episodic headache. We would like to report a patient diagnosed through an uncommon presentation -cardiomyopathy.Case report: A 49-year-old female with hypertension, T2DM and obesity, presented to the emergency department with shortness of breath. Although her CXR & ECG were normal and CTPA ...

Primary hyperparathyroidism (PHPT) is commonly the first and most frequent clinical manifestation in MEN1 occurring in up to 95% of patients. Clinical course differs to that of sporadic PHPTH in terms of complications, surgical management and recurrence rates. This study aims to review the challenges of PHPT in MEN1. Retrospective analysis of patients attending a dedicated MEN1 clinic, under long-term review was carried out (n = 26). 85% had PHPT (n = 22; mal...

Background: Fertility outcomes following transsphenoidal surgery (TSS) for pituitary adenoma are unclear, meaning decision-making regarding management options and peri-operative patient counselling is challenging.Objective: To identify the implications of TSS pituitary adenoma resection on the hypothalamic-pituitary-gonadal (HPG) axis and evaluate longer-term fertility outcomes to identify the burden of post-operative infertility.D...

Background: Transcription factors TPIT, SF-1 and PIT-1 correlate to differentiation of the pituitary cell lineages. In 2017 the World Health Organisation updated the classification of pituitary neuroendocrine tumours (PitNETs) to include transcription factor immunohistochemical (IHC) staining. This has been reiterated in the 2022 classification of PitNETs.Aim: To further refine the diagnostic classification of non-functioning P...

Background: Autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy (APECED) is a rare monogenic disorder characterized by various loss-of-function mutations in the AIRE gene. Clinical manifestations in this case included chronic mucocutaneous candidiasis, hypoparathyroidism, primary adrenal insufficiency, type 1 diabetes, and vitiligo. Additionally, the patient had a history of primary hypothyroidism and epilepsy.Clinical Case: Hypopituitari...

Background: Haemorrhagic stroke below age 45 is often associated with hypertension and warrants additional investigations. We describe a young patient presenting with acute intracerebral haemorrhage, and how further investigations led to the underlying endocrine diagnosis.Case: A 43-year-old female patient with no past medical history presented with facial weakness, speech difficulties and systolic blood pressure above 200mmHg. Brain CT and MRI scans rev...

A 58-year-old woman was referred for a short synacthen testing (SST) prior to discontinuing oral prednisolone (up to 10 mg/day), which had been administered for over several years for management of COPD. Her primary team noted features of presumed iatrogenic Cushing’s syndrome, including cervicodorsal fat pad, type 2 diabetes, dyslipidaemia, hypertension, osteopenia, NAFLD and anxiety, and sought to wean her off glucocorticoids to minimise further adverse effects. On exam...

Background: Patients with macroprolactinoma commonly manifest with symptoms attributable to hyperprolactinemia and/or mass effect. Seizures are a rare presenting feature. We report a case of a male patient who presented with seizures and was subsequently diagnosed with cystic prolactinoma, with favourable response to dopamine agonist therapy.Case description: A 29-year-old man initially presented with generalized tonic-clonic seizures. MRI brain revealed...

Introduction: Marked heterogeneity has been noted in clinical phenotypes of metastatic insulinomas. We present a case series highlighting heterogenous clinical presentations, radiological features, and treatment modalities.Case-1: 55 Male, chronic diarrhoea, weight loss of 18months, with severe hyper-insulinemic hypoglycaemia (HH) of few weeks. 37 mm pancreatic body tumour with multifocal liver metastases; one with marked peri-lesional steatosis (PS). Gr...

Introduction: Obesity is a global epidemic that involves environmental and genetic factors. In humans, loss-of-function mutations in the melanocortin-4-receptor (MC4R) is the most common cause of monogenic obesity. MC4R is one of the five melanocortin receptors known to regulate appetite and nutrients metabolism. Different animal models exist to study the role of MC4R in appetite and metabolism. Here we study a zebrafish model of MC4R loss of function (sa122 mutant line) to de...

Background: Prolactinoma is the most common of all the pituitary tumours (40-60%) requiring medical attention. Most Premenopausal women with prolactinoma usually present with menstrual irregularities, galactorrhoea, and infertility (85-90%) rather than symptoms due to the tumor’s size. In contrast, men typically seek help for symptoms related to the tumor’s mass effect, such as visual impairment (80%), along with less specific symptoms of hypogonadism.<p class="a...

Background: Aggressive PitNETs require multidisciplinary management. Cushing’s disease (CD) poses specific challenges regarding biochemical control and management of complications.Aim: To describe management of a series of aggressive corticotroph PitNETs.Patients: Six patients (2F/4M, 46-75 yo), managed through the pituitary MDT.Results: At diagnosis all patients had overt CD due to macroPitNets (2-3.8 c...

Introduction: Unexplained falls are a common rationale for emergency presentations amongst older adults. Admissions are associated with significant morbidity. We present a case series of two older adults presenting following collapse, with resultant diagnosis of insulin-mediated hypoglycaemia.Case 1: 79 year-old woman presenting following a presyncopal event. In the weeks preceding admission, described lethargy and weight loss, with associated palpitatio...

The increasing availability of MR imaging has led to a rise in the number of referrals of children with pituitary abnormalities to endocrinologists. We are presenting the cases of two female teenagers who underwent pituitary MRI in the context of an intensive headache without associating symptoms suggestive of pituitary insufficiency.Case 1: 12.5 yo girl admitted in neurology clinic due to an episode of lipotimia associated with intense headache; the MRI...

Background: DNA methylation analysis has been proven useful biomarker in patients with colon (1-3), breast (4), and lung cancer (5). However, the clinical utility of this method in neuroendocrine neoplasms (NENs) is limited. Our research group has previously worked on the role of circulating cell-free tumour DNA (ctDNA) in neuroendocrine tumours (NETs) and thyroid cancers. Preliminary findings showed that this is a potentially useful clinical tool (6). We are expanding our res...