Endocrine Abstracts

Background: Gastrointestinal neuroendocrine tumors (GI NETs) are subdivided into grades (G) G1-G3 based on Ki-67 proliferation index (%) (G1<3%, G2 3-20%, and G3 >20%) or mitotic rate, with tumor grade informing prognosis and treatment. Grade progression (GP) over time in GI and pancreatic NETs has recently been identified, with low(G1/2)-to-high(G3) grade progression (L-to-H) the most clinically relevant form. L-to-H is associated with worse survival, yet the timefram...

Background: Grade 3 pancreatic neuroendocrine tumor (G3-PanNET) and neuroendocrine carcinoma (PanNEC) are both defined by Ki67>20% and/or mitoses >20 per 2mm2. PanNET and PanNEC are thought to be molecularly distinct entities and progression from PanNET to PanNEC is considered rare. MEN1, ATRX, DAXX, and TSC1/2 mutations are common in PanNET, while TP53, RB1, KRAS, and SMAD4 mutations are typical of PanNEC. Immunostains for ATRX/DAXX/p53/Rb aid in the classification of...

Background: Pancreatic neuroendocrine tumors (panNETs) are heterogeneous, with grade (G) defined by Ki67 proliferation index (<3% G1, 3-20% G2, and >20% G3) or mitotic rate. Previous studies suggest that baseline Ki67 index may be confounded by biopsy site (primary or metastasis), biopsy technique and primary tumor size. Ki67 differences leading to grade discordance in PanNETs at baseline is relatively understudied. Our study aims to evaluate grade discordance in synch...

Growth hormone deficiency (GHD) diagnosis poses a significant challenge since no test definitively diagnoses GHD. The current diagnostic approach for GHD relies on a determination of auxologic parameters followed by determining Growth Hormone (GH) levels and Insulin-like Growth Factor-I (IGF-I) in serum. However, clinical assessment and interpretation of GH and IGF-1 levels lack sensitivity. Further provocative studies of GH secretion do not have a precise cutoff level that di...

Aims: Charcot foot (CF) is a rare complication of T2DM, progressively leads to bone deformities of the lower extremities. The aim of this study was to record baseline characteristics of patients with CF.Patients and methods: A multicenter retrospective cohort study (n=774), including all patients diagnosed with CF from eight Diabetic Foot Clinics in 6 countries between 01/01/1996 and 31/12/2022, was performed. Data regarding duration and complic...

Introduction: Duchenne muscular dystrophy (DMD) is associated with progressive decline in muscle function and loss of ambulation in the teenage years. Objective assessments of upper limb performance are required but functional assessments and magnetic resonance imaging (MRI) are time consuming and costly. ACTIVE-seated (Ability Captured Through Interactive Video Evaluation) is a fun, inexpensive, movement tracking video game that can measure Functional Reaching Volume (FRV). <...

Primary hyperparathyroidism causing symptomatic hypercalcaemia is often encountered in clinical practice. However, hyperparathyroid crisis is a rare and potentially fatal presentation of primary hyperparathyroidism characterised by profoundly symptomatic hypercalcaemia, altered mental status, and cardiac and renal dysfunction. Recognising the need for rapidly controlling hypercalcaemia with aggressive medical therapy and definitive management with early parathyroidectomy are n...

Background: The incidence of germline pathogenic/likely pathogenic variants (P/LPV) is relatively well described in low grade well differentiated neuroendocrine tumors (NETs). However, germline findings in G3 NENs including grade 3 NETs (G3NET) and poorly differentiated neuroendocrine carcinoma (NEC) is gravely understudied, and guidance related to germline testing in G3NEN is lacking.Methods: An IRB approved, single institution, retrospective chart revi...

Background: Germline pathogenic or likely pathogenic (P/LP) variants occur in approximately 10% of NEN patients with recent data suggesting a higher frequency in pancreatic NENs or paraganglioma/pheochromocytoma (PPGL). However, identification of VUS can complicate interpretation of germline results, particularly when diverse populations are under study and the optimal gene panel size for testing remains unclear.Methods: A single-center retrospective cha...

Introduction: Hyperosmolar hyperglycaemic state (HHS) is an acute complication of diabetes which requires prompt recognition to prevent morbidity and death. Owing to its low prevalence, clinicians report a lack of confidence in management, which may result in delayed diagnosis and worsened outcomes. The limited literature on HHS management means most guidelines are based solely on expert opinion, resulting in significant discrepancies between care in centres.<p class="abst...