Searchable abstracts of presentations at key conferences in endocrinology

ea0085oc8.4 | Oral Communications 8 | BSPED2022

A national survey of bone-endocrine monitoring in duchenne muscular dystrophy and the patients experience

Thakrar Sejal , Turner Catherine , Guglieri Michela , Johnson Alex , Wong Sze Choong

Objectives: DMD Care UK (www.dmdcareuk.org) is a national project initiated and funded by Duchenne UK in collaboration with Newcastle University and the UK North Star clinical network. The main aim is to facilitate implementation of care standards across the UK national health system. In 2021, DMD Care UK conducted a comprehensive online family survey of all aspects of care of boys with DMD with the aim of capturing the patients experienc...

ea0086p122 | Reproductive Endocrinology | SFEBES2022

Are elevated red blood cell parameters coincidental or correlated in patients with Turner syndrome?

D S A Dilrukshi M , Beck K , Roy N , Turner H E

Introduction: Long-term increased morbidity and mortality in Turner Syndrome (TS) due to vascular disease is recognized, and suggested risk factors include metabolic parameters and possible change in haemostasis, however elevated red cell parameters in women with TS have not previously been noted.Methods: Following an observation of unexplained occurrence of elevated hemoglobin, a quality improvement-project was conducted to retrospectively review full b...

ea0086p132 | Thyroid | SFEBES2022

Reconsidering the role of thyroidectomy in thyroid eye disease (TED) patients

Sipkova Zuzana , Keren Shay , David Joel , Mihai Radu , Turner Helen , Norris Jonathan

Purpose: Graves’ disease is an autoimmune condition that can cause hyperthyroidism and thyroid eye disease (TED). Definitive treatment is required in approximately 50% patients. Thyroidectomy remains the least chosen primary treatment (2%-18%) despite it having the highest cure rate (>95%). Our aim was to determine the current relationship between patients’ TED and thyroidectomy in a multidisciplinary specialist eye clinic at a tertiary referral centre.<p cla...

ea0086p290 | Thyroid | SFEBES2022

Late relapse of thyroid eye disease (TED)

Murphy Noel , Oustabassidis Eva , David Joel , Norris Jonathan H , Turner Helen E

Generally, after an initial active phase TED rarely reactivates. However, epidemiological evidence is scant. The following cases highlight the propensity for Graves’ orbitopathy to reactivate many years later.Case 1: A 69-year-old woman had Graves’ disease aged 29, and was reviewed in the TED clinic (ophthalmology, rheumatology and endocrinology), with reactivation of orbitopathy 40 years after initial disease. She was an ex-smoker, had hyperte...

ea0065oc1.3 | Metabolism and Obesity | SFEBES2019

Metabolic and functional effects of fatty acid overload on in vitro tissue engineered skeletal muscle

Turner Mark , Rimington Rowan , Martin Neil , Fleming Jacob , Capel Andrew , Hodson Leanne , Lewis Mark

Introduction: Efficient fuel selection between glucose and fatty acids in insulin-sensitive organs is a key feature which determines metabolic health in humans. In skeletal muscle, lipid storage and utilisation can differ between healthy and diseased individuals, however to date there are limited in vitro models to explore this. Therefore, aim of this work was to investigate the effects of nutrition on engineered skeletal muscle health and metabolism.<p class="abs...

ea0065p364 | Reproductive Endocrinology and Biology | SFEBES2019

Retrospective analysis of pulmonary venous drainage in 90 patients with Turner syndrome demonstrates abnormalities are common; Is it time to review the guidelines?

Stockenhuber Alexander , Soundarajan Raj , Myerson Saul , Kelion Andrew , Turner Helen , Orchard Elizabeth

Turner syndrome is a common chromosomal disorder affecting 1 in 2500 life female births. Turner syndrome is associated with congenital cardiovascular malformations of the aortic arch, systemic and pulmonary venous return with reported incidences ranging from 23 to 45%. These vascular malformations cause significant morbidity and mortality with increased incidence of aortic pathology, right heart strain and pulmonary hypertension as a result. In this investigation we retrospect...

ea0049gp138 | Female Reproduction | ECE2017

Turner’s syndrome and abnormal liver chemistry: relationship with karyotype in a large dedicated clinic

Calanchini Matilde , Moolla Ahmad , Tomlinson Jeremy W , Cobbold Jeremy , Fabbri Andrea , Grossman Ashley , Turner Helen

Introduction: Abnormal liver function tests (↑LFTs) are frequently observed in Turner’s syndrome (TS), although the aetiology is unclear. Obesity is reported as one of the causes; recently an increased prevalence of elevated GGT was found in TS patients with a ring X karyotype.Aim: To analyse the association between abnormal LFTs and TS-related conditions, and in particular their relationship with the different TS-karyotypes.<p class="abst...

ea0049ep1145 | Female Reproduction | ECE2017

Oocyte donation in women with Turner’s syndrome: successful outcome can be achieved with a specialist multidisciplinary approach

Calanchini Matilde , Baker Kathy , Fabbri Andrea , Grossman Ashley , Orchard Elizabeth , Child Tim , Turner Helen

Introduction: Although oocyte donation (OD) is increasingly utilised in women with Turner’s syndrome (TS) few data are available. Reported clinical pregnancy rates following OD range from 17 to 40%. Complications of 2% death from aortic dissection and severe hypertension are reported.Aim: To analyse the OD-pregnancy success rate and materno-fetal outcomes in women followed in a TS-dedicated centre.Methods: A retrospective stud...

ea0048o1 | Oral Communications | SFEEU2017

40 years of hypoglycaemia and an adrenal mass

O'Toole Sam M , Turner Ben C , Plowman P Nick , Batterham Rachel L , Drake William M

Case History: A 69-year-old gentleman was admitted having lost consciousness. This episode was preceded by typical hypoglycaemic symptoms which, in retrospect, he had experienced for four decades with increasing frequency and severity over the past year. He was hypertensive. There was no family history of endocrinopathy or diabetes.Investigations: A supervised inpatient fast was undertaken along with cross-sectional and radio-isotope imaging.<p class...

ea0044p220 | Reproduction | SFEBES2016

Management of Turner’s syndrome women with liver involvement: FIB-4 score is a promising marker of fibrosis

Calanchini Matilde , Moolla Ahmad , Tomlinson Jeremy W , Cobbold Jeremy , Fabbri Andrea , Grossman Ashley , Turner Helen

Introduction: Liver involvement is frequent in Turner’s syndrome (TS). We have shown that 35% TS women have elevated liver function tests (↑LFTs). Most common hepatic changes include steatosis and steatohepatitis; however, progression to advanced fibrosis and cirrhosis is reported. This study assessed a simple noninvasive test for liver fibrosis, FIB-4, which combines standard biochemical values (platelets, ALT, AST) and age in order to evaluate its diagnostic perfo...