Searchable abstracts of presentations at key conferences in endocrinology

ea0062p24 | Poster Presentations | EU2019

First paraganglioma identified on surveillance screening in an asymptomatic SDHA germline mutation carrier

White Gemma , Tufton Nicola , Adams Ashok , Akker Scott

Case history: We present the case of a 72-year-old female who was referred to the endocrinology service following the identification of a pathogenic germline mutation in the SDHA gene (c.91C>T, p.Arg32*) as part of a genetic panel for hypertrophic cardiomyopathy. There was no personal or family history of phaeochromocytoma or paraganglioma (PPGL), gastrointestinal stromal tumours or pituitary adenoma.Investigations: Our patient was reviewed ...

ea0078OC5.1 | Oral Communications 5 | BSPED2021

Evaluating UK Referral Criteria for Children with Short Stature in a Tertiary Paediatric Endocrinology Centre

White Gemma , Cosier Shakira , Andrews Afiya , Willemsen Ruben H. , Savage Martin O. , Storr Helen L.

Background: Childhood growth monitoring aims to identify growth failure and detect underlying pathology. According to UK guidance, height <-2.7 standard deviation score (SDS) (<0.4th percentile) is used as the referral threshold. Additional referral criteria include height deficit (HSDS-target height SDS) <-2.0 and height velocity (HV) SDS <-1.3. Lack of routine HV and mid-parental height calculation, combined with stricter cut-offs compared to other European c...

ea00100p34 | Poster Presentations | SFEEU2024

A rare case of hypoxia and metastatic multifocal paraganglioma

Sathyanarayan Sheela , ElGhazoini Safa , White Gemma , Izatt Louise , Carroll Paul , Duncan Emma

A 48-year-old woman with complex cyanotic congenital heart disease due to dextrocardia was found to have a urachal remnant during routine ultrasound as part of her cardiac monitoring. Unexpected, excision via partial cystectomy without any hypertensive crisis identified 12 mm bladder paraganglioma [PGL], with local metastases to bladder (distinct from primary lesion) and lymph nodes (pT2b N1). Post operatively (following histopathology diagnosis), biochemistry demonstrated mar...

ea0094p337 | Endocrine Cancer and Late Effects | SFEBES2023

Pilot study of liquid biopsy in paragangliomas: a feasible alternative to tissue biopsy in inoperable and multifocal lesions?

White Gemma , Quinn Mark , Carroll Paul , Velusamy Anand , Thakali Sonu , J. Oakey Rebecca , Izatt Louise , Hassan Fahim-UI

Background: Phaeochromocytoma and paraganglioma (PPGL) are highly heritable, with 30-40% due to a germline pathogenic variant. An additional 40% of tumours will harbour a somatic variant. Understanding the variant status of a tumour enables molecular classification. Liquid biopsy offers a novel approach to non-invasive diagnostics by harnessing the ability to detect small amounts of circulating-free DNA (cfDNA) and performing genomic sequencing. There are few ...

ea0065p133 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019

Tumour detection and outcomes of surveillance screening in SDHB and SDHD mutation carriers

White Gemma , Masucci Michael , Anandappa Samantha , Joshi Mamta , McGowan Barbara , Obholzer Rupert , Jacques Audrey , Christodoulou Dimitra , Izatt Louise , Velusamy Anand , Carroll Paul

Background: Pathogenic variants in genes encoding Succinate Dehydrogenase subunits B and D (SDHB/SDHD) predispose to Phaeochromocytoma and Paraganglioma (PPGL). Cascade genetic screening identifies relatives at risk and allows surveillance screening to enable early detection of PPGLs.Methods: Retrospective analysis of genetic databases and hospital records between January 2000 and December 2018 identified relatives carrying SDHB and <em...