Searchable abstracts of presentations at key conferences in endocrinology

ea0094p91 | Neuroendocrinology and Pituitary | SFEBES2023

A novel AIP deletion emphasising the variable phenotype of AIP-related pituitary neuroendocrine tumours

Benjamin Loughrey Paul , J Morrison Patrick , K Ellis Peter , R Mullan Karen , Korbonits Marta

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-...

ea0086p97 | Neuroendocrinology and Pituitary | SFEBES2022

Aberrant cyclic GMP-AMP synthase stimulator of interferon genes signalling in an AIP mutant cell line

Benjamin Loughrey Paul , Suleyman Oniz , Begalli Federica , Craig Stephanie G , Hunter Steven J , McArt Darragh G , James Jacqueline A , Haworth Oliver , Barry Sayka , Korbonits Marta

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...

ea0086p106 | Neuroendocrinology and Pituitary | SFEBES2022

Identifying and characterising variants in patients with pachydermoperiostosis

Angurala Ishita , Barry Sayka , Rice Tom , Magid Kesson , Rai Ashutosh , Benjamin Loughrey Paul , Dutta Pinaki , Stelmachowska Banaś Maria , Korbonits Marta

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...

ea0070aep671 | Pituitary and Neuroendocrinology | ECE2020

To score or not to score? Is Ki-67 analysis worthwhile in pituitary neuroendocrine tumours?

Benjamin Loughrey Paul , Craig Stephanie , Herron Brian , Abdullahi Sidi Fatima , McQuaid Stephen , Kelly Paul , Humphries Matt , Parkes Eileen , McArt Darragh , Hunter Steven , Korbonits Marta , James Jacqueline

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...