Endocrine Abstracts

Introduction: Cushing’s disease is usually caused by functional corticotroph microadenomas of the pituitary. Crooke’s cell adenomas are rare, representing approximately 2% of corticotroph adenomas and mostly present as aggressive macroadenomas. Pituitary adenomas showing immunoreactivity for both ACTH and GH are also very uncommon. We present two cases of Cushing’s disease caused by macroadenomas with Crooke’s cell cha...

Background: Despite a wealth of gene-discovery studies identifying recurrently mutated genes in hereditary and sporadic endocrine tumours, the molecular mechanisms underpinning tumourigenesis frequently remain ill-defined, in part reflecting a lack of physiologically relevant model systems to investigate gene function. Here, using pancreatic neuroendocrine tumours as an example, we explored the utility of human induced pluripotent stem cell (iPSCs) and CRISPR/Cas9 gene-editing...

Purpose: High serum prolactin concentrations have been associated with adverse health outcomes in some but not all studies. This study aimed to examine the morbidity and all-cause mortality associated with hyperprolactinaemia.Methods: A population-based matched cohort study in Tayside (Scotland, UK) from 1988 to 2014. Record-linkage technology (biochemistry, prescribing, hospital admissions, cancer registration, mat...

Introduction: Cushing’s disease is usually caused by functional corticotroph microadenomas of the pituitary. Crooke’s cell adenomas are rare, representing approximately 2% of corticotroph adenomas and mostly present as aggressive macroadenomas. Pituitary adenomas showing immunoreactivity for both ACTH and GH are also very uncommon. We present two cases of Cushing’s disease caused by macroadenomas with Crooke’s cell cha...

A 50-year-old female with complex chronic hypoxic congenital heart disease was incidentally identified with a 2 cm extra-vesicular nodule of the bladder during a surveillance ultrasound scan. Suspicious of a bladder carcinoma she uneventfully underwent open partial cystectomy. Histology confirmed a bladder paraganglioma with local lymph node invasion. Post-operative biochemical work-up disclosed raised plasma metanephrine”s: normetadrenaline 7073 pmol/l (120-1180 pmol/l),...

Background: Previously, we showed that thyroid hormone (TH) supplementation reduced hepatosteatosis in patients with non-alcoholic fatty liver disease (NAFLD) and was more effective in older patients. We hypothesized that intrahepatic TH concentrations may decrease with age. To investigate this issue, we examined the effects of age on intrahepatic TH concentrations in a mouse model of NAFLD.Methods: Intrahepatic TH levels and deiodinase activity were mea...

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominantly inherited condition predisposing to primary hyperparathyroidism (PHPT), pituitary tumors, gastroenteropancreatic tract neuroendocrine tumors (NET), thymic tumours and skin lesions. Clinical features are rare in the paediatric population and guidance exists on the screening for complications of MEN1.Objective: To describe clinical features and treatment outcomes in a sin...

Introduction: Germline and somatic inactivating MEN1 variants are associated with a wide range of inherited and sporadic endocrine tumours. MEN1 encodes the tumour suppressor Menin, a ubiquitously expressed scaffold protein, implicated in multiple cellular processes including transcription, epigenetic regulation, and modulation of key signaling pathways. Despite intensive study, the mechanisms leading to endocrine tumorigenesis remain ill-defined, in part ref...

Introduction: The successful implementation of clinical genetic testing relies on accurate variant interpretation, as misclassification can result in significant harm to the patient and wider family. Missense single nucleotide variants (SNVs) pose a particular challenge, with current interpretation methods often unable to differentiate pathogenic variants from rare neutral variants, resulting in high numbers of variants of uncertain significance (VUS), and diagnostic uncertain...

Background: Oncolytic viruses (OV) hold potential for not only delivering durable anti-tumor responses but also converting immunologically “cold” tumors to “hot” tumors. Seneca Valley Virus (SVV-001) is a naturally occurring oncolytic picornavirus found to have selectivity for tumor cells with neuroendocrine (NE) properties. Because of the paucity of syngeneic murine NE tumor models, we evaluated the efficacy of Seneca Valley Virus (SVV), in combination wit...