Searchable abstracts of presentations at key conferences in endocrinology

ea0062cb12 | Additional Cases | EU2019

Acromegaly… challenges and treatment aspects

Hussein Ziad , Srirangalingam U

Case history: We report a 25-year-old man who presented to Neurology with two years history of a migrainous headache mainly at night. MRI head scan demonstrated large lobulated pituitary macroadenoma with significant suprasellar extension and anterior visual pathway compromise along with distortion of the basal forebrain, particularly on the right. Consequently, he was referred to the endocrinology team for further management. Upon initial assessment, he reported foot size enl...

ea0037ep1150 | Endocrine tumours | ECE2015

A one-stop multi-disciplinary VHL clinic: patient benefits and feedback

O'Toole S , McAndrew L , Drake W , Srirangalingam U

Introduction: Von Hippel-Lindau (VHL) syndrome is a complex multi-organ disorder with significant associated morbidity and mortality. Patients see multiple specialities and have many clinic appointments which can significantly disrupt their lives. In 2012 the St Bartholomew’s VHL multi-disciplinary clinic was set up. It consists of an amalgamated one-stop clinic for patients and their families when all relevant specialities are seen in one sitting. The major aims were to:...

ea0019p208 | Growth and development | SFEBES2009

Antisense oligonucleotides to correct the aberrant growth hormone receptor mRNA splicing caused by the pseudoexon 6Ψ defect

David A , Srirangalingam U , Metherell LA , Khoo B , Clark AJL

Background: The growth hormone receptor (GHR) 6Ψ pseudoexon mutation (A to G at ds-1) is one of the most frequent mutations causing GH insensitivity. It causes aberrant mRNA splicing, leading to activation of a pseudoexon and insertion of 36 additional amino acids, resulting in a functionless receptor. Although IGF-I remains the mainstay of treatment for these patients we investigated the ability of RNA antisense oligonucleotides (ASOs) to correct aberrant GHR splicing us...

ea0065p85 | Bone and calcium | SFEBES2019

The use of 2D-computed tomography scan as a first-line imaging modality in primary hyperparathyroidism

de Jong MC , Hussein Ziad , Jamal K , Morley S , Beale T , Jawad S , Abdel-Aziz TE , Chung TT , Baldeweg SE , Simpson HL , Srirangalingam U , Kurzawinski TR

Background: Minimally invasive parathyroidectomy relies on accurate localisation of the culprit gland. Combination of US plus Technetium 99m-sestamibi is considered the gold standard. CT parathyroid is thought to be a valuable tool in the pre-operative localisation.Aim: To evaluate the diagnostic performance of 2D CT parathyroid in patients with primary hyperparathyroidism (PHP).Methods: This was a single-institution prospective st...

ea0037ep1148 | Endocrine tumours | ECE2015

Succinate dehydrogenase B associated bladder paragangliomas

Srirangalingam U , Banerjee A , George E , Druce M , Waterhouse M , Chew S L , Peters J , Patki P , Kumar A J , Berney D , Sahdev A , Drake W M , Akker S A

Objective: Succinate dehydrogenase B (SDHB) germline mutations are associated with predominantly extra-adrenal paraganglioma (PGLs) and high rates of metastatic disease. Bladder paragangliomas are a rare form of chromaffin cell tumours arising from the bladder wall. The aim of the study is to highlight the preponderance of bladder paragangliomas associated with SDHB gene mutations.Design: Retrospective case series.Patients: Five of...

ea0037ep1149 | Endocrine tumours | ECE2015

Excision of phaeochromocytoma and paraganglioma involving the great vessels

Srirangalingam U , Gunganah K , Parvanta L , Metcalfe K , Besser G M , Sahdev A , Flora H S , Bhattacharya S , Carpenter R , Akker S , Edmondson S J , Drake W

Objective: The aim of the study was to describe the surgical management of phaeochromocytomas and paragangliomas which lie in close proximity to or involve the great vessels including the aorta and vena cava.Design: Retrospective case-series. Patients: five subjects undergoing surgical excision of either a phaeochromocytoma or paraganglioma involving the great vessels seen at St Bartholomew’s Hospital, UK (2004–2013).Meas...

ea0019oc39 | Thyroid, reproduction and endocrine tumours | SFEBES2009

Contrasting clinical manifestations of SDH-B and VHL associated chromaffin tumours

Srirangalingam U , Khoo B , Walker L , MacDonald F , Skelly RH , George E , Spooner D , Johnston L , Monson JP , Grossman AB , Akker SA , Drake WM , Pollard PJ , Plowman N , Avril N , Berney DM , Burrin JM , Reznek RH , Kumar VKA , Maher ER , Chew SL

Background: Mutations in succinate dehydrogense-B (SDH-B) or von Hippel Lindau (VHL) genes can result in chromaffin tumours.Objective: To compare the clinical phenotypes of subjects developing chromaffin tumours as a result of SDH-B or VHL mutations.Subjects: Thirty-one subjects with chromaffin tumours. Sixteen subjects had SDH-B gene mutations and 15 subjects had a diagnosis of VHL.<p ...