Searchable abstracts of presentations at key conferences in endocrinology

ea0085p73 | Miscellaneous 2 | BSPED2022

Central precocious puberty in a patient with short stature and skeletal abnormalities in KBG syndrome due to ANKRD11 variant

Blackburn James , Calder Alistair , Gevers Evelien

Introduction: Underlying causes of short stature are difficult to establish and many patients with short stature do not have a clear diagnosis. Careful examination and investigation of patients with short stature may identify additional features that help to make a diagnosis or direct genetic testing. Here we describe a patient with severe short stature with additional features on examination and skeletal survey in keeping with KBG syndrome. In addition, the patient developed ...

ea0011p213 | Comparative endocrinology | ECE2006

Retrospective study of usefulness of Sestamibi scan in primary hyperparathyroidism

John K , Blackburn S , Miell J , Diaz C

Background and Aims: Primary Hyperparathyroidism is fairly common and the diagnosis is established by demonstrating raised blood parathormone levels in the presence of hypercalcemia. Sestamibi scan is an investigation used primarily to identify the offending gland which would help in surgery. The aim of this study was to assess the usefulness of sestamibi scan in Primary Hyperparathyroidism.Method: Case notes for patients with Primary Hyperparathyroidism...

ea0011p756 | Steroids | ECE2006

The glucocorticoid receptor 1a promoter in CD4+CD8+ thymocytes is rapidly upregulated following dexamethasone treatment in vitro

Nixon J , Sheridan J , Blackburn C , Chapman K

Glucocorticoid Receptor (GR) levels are increased in response to glucocorticoids (GC) in T-lymphoma cell lines susceptible to GC-induced cell death (GICD). The GR gene is transcribed from 5 promoters generating alternate first exons, 1A-1E, with 1A expression restricted to immune tissue and the cortex of the brain. Expression of the 1A-containing variant correlates with susceptibility to GICD in mouse thymocytes. Here we describe the time course of GC induction of total GR mRN...

ea0066p76 | Pituitary | BSPED2019

A new frameshift mutation in immunoglobulin superfamily, member 1 (IGSF1) results in central hypothyroidism, delayed puberty and GH deficiency

James Blackburn , van Meijgaarden Birgit , Ahmed Shahida , Gaston-Massuet Carles , Gevers Evelien

Background: Central hypothyroidism (CeHT) is uncommon in children. CeHT is often part of multiple pituitary hormone deficiency but can occur in isolation, and may occasionally be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating mutation of IGSF1.Case presentation: A 15-year-old male was referred for pubertal delay, obesity and abnormal TFTs (FT4 (6.5 pmol/l [8...

ea0058p016 | Gonadal | BSPED2018

A review of region-wide consultant knowledge of the management of disorders of sexual development (DSD)

Blackburn James , Sudarsanan Sunanda , Senniappan Senthil , Das Urmi , Blair Joanne , Alsaffar Hussain

Background: Disorders of sexual development (DSD) are estimated to occur in every 1 in 4500 births. This project builds upon previous work by the authors to explore the knowledge and management of paediatric junior doctors in a single deanery. The majority of junior doctors stated that they would seek the advice and explanation of paediatric consultant. We therefore attempted to qualify the knowledge and management strategies of the region-wide consultant body with regards to ...

ea0051p005 | Thyroid | BSPED2017

Follicular thyroid carcinoma due to a heterozygous gain of function mutation in thyrotropin receptor (TSHR)

Blackburn James , Giri Dinesh , Seniappan Senthil , Didi Mohammed , Ciolka Barbara , Jones Matthew , Kokai George , Waghorn Alison , Gossan Nicole

Introduction: Activating mutations in thyrotropin receptor (TSHR) have been previously described in the context of non-autoimmune hyperthyroidism (familial or sporadic) and thyroid adenomas. We describe, for the first time, a mutation in TSHR contributing to follicular thyroid carcinoma (FTC) in an adolescent girl.Case: A 12-year-old girl presented with a right-sided neck swelling, increasing in size over the previous four weeks. Clinic...

ea0066oc4.4 | Oral Communications 4 | BSPED2019

A novel clinical risk score that accurately predicts recurrence of craniopharyngioma – a multicentre cohort study

Kyprianou Nikolina , Blackburn James , Tan Rachael , Korbonits Marta , Dattani Mehul , Dutta Pinaki , Bhansali Anil , Rai Ashutosh , Ribalta Teresa , Bulfamante Gaetano Pietro , Massa Valentina , Roncaroli Federico , Evanson Jane , Skoric Tanja , Kastelan Darko , Gnanalingham Kanna , Mitchell Rod , Bulfamante Antonio Mario , Argente Jesus , Goycoolea Andres , Torales Jorge , Biagetti Betina , Audi Laura , Resmini Eugenia , Webb Susan M , Kapoor Ritika R , Chandler Christopher , Sampron Nicolas , Preda Cristina , Ahmad Amar , Gevers Evelien F Pease , Gaston-Massuet Carles

Introduction: Craniopharyngiomas (CPs) are histologically benign tumours but are clinically associated with significant morbidity and mortality. Recurrence of CPs is known to influence mortality, but apart from the extent of surgical resection, no clinical characteristics have been shown to predict recurrence. Complete resection is difficult due to their infiltrative behaviour and unacceptable morbidity. Thus, predictors of risk of recurrence are needed....