Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp176 | Parathyroid | ECE2018

Symptom burden and HRQoL reported among patients with chronic hypoparathyroidism: impact of treatment with rhPTH (1-84) and with standard therapy

Chen Kristina , Hadker Nandini , Abibova Irana , Hanbury-Brown Lachlan , Vera-Llonch Montserrat , Clarke Bart

Chronic hypoparathyroidism (HypoPT) is a rare disease associated with a variety of symptoms and diminished health-related quality of life (HRQoL). This study aimed to characterise and quantify the symptom burden, HRQoL, and overall disease impact in patients receiving recombinant human parathyroid hormone (rhPTH1-84, Natpar®) for inadequately controlled HypoPT and in symptomatic patients receiving standard therapy (ST; calcium and/or vitamin D supplements). A w...

ea0096p10 | Section | UKINETS2023

A prrt patient experience survey – what really matters to patients?

Coldham Mr. Chris , Butler Mrs Vicky , Brown Mrs Emily , Smith Mrs Stacey , Shah Dr. Tahir

Introduction/Background: PRRT is a high cost treatment for progressing Neuroendocrine tumours. Patients and healthcare providers invest heavily in the treatment journey that lasts a number of months.Aims: To assess the level of patient satisfaction with the PRRT service, to indicate areas for possible improvement and good practice and serve as a baseline for future assessments.Material and ...

ea0096p17 | Section | UKINETS2023

Bridging the gap between neuroendocrine tumour service and nuclear medicine, a new cns role?

Coldham Mr. Chris , Smith Ms. Stacey , Brown Mrs Emily , Shah Dr. Tahir

Introduction/Background: Neuroendocrine Tumour (NET) patients can have specialist and complex needs and this can be exacerbated when they have PRRT. A new role was envisaged that would utilise a NET Clinical Nurse Specialist to work with both Nuclear Medicine and the NET team for delivering PRRT.Aims: As part of the wider NET team the aim for the new CNS was to embed outpatient PRRT delivery, increase capacity and delive...

ea0096p25 | Section | UKINETS2023

Sequencing of treatment in G1-2 pancreatic neuroendocrine tumour - a case study

J Shi , D Sarker , J Mencel , R Srirajaskanathan , S Brown , D Clement , J Ramage , S Dolly

Herein, we present the case of a 48yo Caucasian male diagnosed with a well differentiated (WD) pancreatic NET. At primary resection in 2014 pathological staging was pT3N1M0 R0 with Ki67 4%. 5 years later he developed recurrence in local lymph nodes and started on lanreotide followed by IRE on subsequent progression. In 2020, there was strongly DPET-avid metastases in mesenteric nodes and liver, so he was enrolled onto the COMPETE trial1. There was sequential progressive diseas...

ea0096p26 | Section | UKINETS2023

Case report: a rectal neuroendocrine tumour with dynamic grade and clinical behaviour

Evan Theodore , Sarker Debashis , Mencel Justin , Srirajaskanthan Raj , Clement Dominique , Ramage John , Brown Sarah , Dolly Saoirse

Introduction: Neuroendocrine tumours (NETs) may change grade and clinical behaviour substantially over time, requiring shifts in management strategy.Case Presentation: A 53-year-old lady presented with abdominal bloating and diarrhoea. Diagnostic MRCP and CT-CAP confirmed metastatic cancer, with bilobar liver metastases and a sclerotic lesion in the right ilium. Her disease was 68Ga-DOTATATE-avid. Rectal biopsy confirmed...

ea0095p33 | Diabetes 2 | BSPED2023

Neonatal diabetes: A challenging case scenario and therapeutic considerations

Sathesh Kumar Sajithbhavan Kuttappan , Stuart Davision , Shaju Edavana , Casey Lambourne , Vicki Brown , Bev Anderson

Neonatal Diabetes: A Challenging Case Scenario and Therapeutic Considerations Neonatal diabetes is a rare form of diabetes mellitus that presents in the first six months of life. This abstract highlights a challenging case scenario of neonatal diabetes and provides insights into the diagnostic approach, therapeutic considerations, and long-term management strategies. The case involves a term male neonate who presented with severe hyperglycemia, polyuria, and failure to thrive....

ea0034oc4.6 | Thyroid and bone | SFEBES2014

An ENU-induced Tyr265Stop mutation in Polg2 is associated with renal calcification in RCALC2 mice

Gorvin Caroline , Piret Sian , Ahmad Bushra , Stechman Michael , Loh Nellie , Hough Tertius , Leo Paul , Marshall Mhairi , Sethi Siddharth , Bentley Liz , Reed Anita , Christie Paul , Simon Michelle , Mallon Ann-Marie , Brown Matthew , Cox Roger , Brown Steve , Thakker Rajesh

Renal calcification (nephrocalcinosis), which has a multi-factorial etiology involving environmental and genetic determinants, affects ~8% of adults by 70 years. Nephrocalcinosis may occur as a familial disorder in ~65% of patients, and in 70% of patients, nephrocalcinosis may be associated with endocrine and metabolic disorders that include primary hyperparathyroidism, renal tubular acidosis, hypercalciuria, cystinuria, and hyperoxaluria. Investigations of families with hered...

ea0031oc2.6 | Steroids and thyroid | SFEBES2013

An N-ethyl-N-nitrosourea induced Corticotrophin releasing hormone promoter mutation provides a mouse model of Cushing's syndrome

Bentley Liz , Esapa Christopher T , Nesbit M Andrew , Head Rosie A , Evans Holly , Lath Darren , Hough Tertius A , Podrini Christine , Fraser William D , Croucher Peter I , Brown Matthew A , Brown Steve D M , Cox Roger D , Thakker Rajesh V

Cushing’s syndrome, which is characterised by excessive circulating glucocorticoid (GC) concentrations, may be due to ACTH-dependent or -independent causes that include anterior pituitary and adrenal cortical tumours, respectively. In the course of our phenotype-driven screens of mouse mutants induced by the chemical mutagen N-ethyl-N-nitrosourea (ENU), we observed a mutant mouse with obesity, hyperglycaemia and low bone mineral density, features that ar...

ea0019p6 | Bone | SFEBES2009

A Ser1386Pro mutation in the C-propeptide domain of Col2a1 results in spondyloepiphyseal dysplasia congenita in mice

Esapa C , Hough T , Testori S , Head R , Crane E , Chan C , McNally E , Carr A , Brown M , Croucher P , Nesbit M , Brown S , Cox R , Cheeseman M , Thakker R

We are investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) to establish models for hereditary bone disorders such as osteoporosis, osteoarthritis and skeletal dysplasias. We report on one such mouse model designated Longpockets (Lpk). Mice were kept in accordance with national welfare guidelines and project license restrictions. Lpk/+ mice are viable and fertile, present with short humeri by two weeks of birth and have a...

ea0055p14 | Poster Presentations | SFEEU2018

Low ACTH and cortisol production following adrenalectomy for primary aldosteronism

Goodchild Emily , Wu Xilin , Salsbury Jackie , Kurzawinski Tom , Matson Matthew , Cheow Heok , Chung Teng Teng , Drake William , Brown Morris

Case history: A 74-year-old gentleman with primary aldosteronism (PA) was referred for the ‘MATCH’ study – a prospective comparison of 11C-metomidate PET CT with adrenal vein sampling. He took no exogenous steroids.Investigations: Na 147 mmol/l, K 3.7 mmol/l, aldosterone 496 pmol/l, renin activity <0.17 nmol/l per h, random cortisol 247 nmol/l and concomitant ACTH 9.3 ng/l. Two overnight dexamethasone suppression tests recorded values ...