Endocrine Abstracts

A 16-year-old female presented with secondary amenorrhoea. Menarche was age 14 years and periods were less frequent over the preceding 12 months. There was no galactorrhoea, headache or visual field disturbance and no known family history of pituitary disease, tall stature or infertility. There were no clinical signs of Cushing’s disease or acromegaly and visual fields were full to confrontation. Height was 160 cm. Investigations showed a prolactin of 2,452 mIU/l (RR 102-...

Background: The cyclic GMP-AMP synthase stimulator of interferon genes (cGAS-STING) signalling pathway is an element of the innate immune response and is activated by the presence of DNA in the cytosol. Triggering of this immune response may occur in the setting of infection or neoplasia. Activation of this pathway results in phosphorylation of interferon regulatory factor 3 and downstream transcription of cytokines such as interferon β and interleukin-6. Polyinosinic:pol...

Introduction: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHOA) is a rare genetic condition characterised by digital clubbing, pachydermia, hyperhidrosis, cutis verticis gyrata and periostosis. The SLCO2A1 transporter and HPGD enzyme genes play an important role in prostaglandin metabolism, hence loss of function mutations in them causes PHOA. To date, according to the VarSome database 101 and 41 variants have been identified in the SLCO...

Pituitary neuroendocrine tumours (PitNETs) are heterogeneous and have limited biomarkers to predict their behaviour, thus making their prognostication difficult. Ki-67 is a protein expressed in active phases of the cell cycle and is one of the biomarkers utilized in routine assessment of PitNET tissue. Current European Society of Endocrinology recommendations advise that histopathological analysis of PitNETs should as a minimum include Ki-67 proliferation index and anterior pi...

Background: Pituitary neuroendocrine tumours (PitNETs) have almost invariably benign histopathological characteristics but result in comorbidity and mortality. There has been interest in the composition of the PitNET immune microenvironment, particularly with the advent of immunotherapy-associated hypophysitis linked to PD-L1 and CTLA-4 checkpoint inhibitors. The innate immune cGAS-STING pathway is activated by DNA damage and DNA damage is a known feature of somatotrophinomas....

Background: Paragangliomas are rare neuroendocrine tumours of the sympathetic and parasympathetic paraganglia. Optimal outcomes are dependent on careful investigation, management and follow-up.Aim: The aim of this audit was to review clinicopathological characteristics of a cohort of operated abdominal paragangliomas in Northern Ireland.Methods: This is a retrospective audit of abdominal paragangliomas from the Northern Ireland reg...

Background: Large series of patients elucidating the natural history of conservatively managed non-functioning pituitary macroadenomas (macroNFPAs) and relevant prognostic factors are not available.Objectives: Clarify long-term outcomes of macroNFPAs in large cohort of patients.Methods: Multi-centre [21 UK endocrine departments-UK NFPA consortium], retrospective, cohort study of ca...