Endocrine Abstracts

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...

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:...

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...

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...

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...

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...

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 ...