Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep101 | Pituitary and growth | BSPED2015

Case series evaluating phenotypical and radiological signs of patients with SHOX mutation

Childs Alexandra , Ferguson Jane , Burren Christine , Crowne Elizabeth , Moudiotis Christopher

Background: Estimates for the prevalence of SHOX mutation in children with short stature vary from 2 to 15%. Unless specific clinical and radiological signs are sought these patients can be misdiagnosed as idiopathic short stature. An evidence based clinical scoring system has been published to identify these patients; more recently characteristic radiological signs have also been identified in bone age X-rays. To our knowledge there has not been a survey in the UK ev...

ea0036P48 | (1) | BSPED2014

Initial care of babies born with ambiguous genitalia: a service evaluation

Wijeyaratne Lihini , Burren Christine , Barton John , Crowne Elizabeth

Introduction: Disorders of sex development (DSD) may present in the newborn as ambiguous genitalia. Gender determination and diagnosis must occur as quickly as possible to minimise parental distress. Aim: to evaluate the initial care of babies born with DSD, and identify areas for improvement.Methods: Detailed assessment of 14 neonatal presentations at a tertiary centre between 2012 and 2014 was undertaken. Based on local trust guidelines, several parame...

ea0036P73 | (1) | BSPED2014

GH deficiency contributes to short stature in children with chromosome 18 rearrangements

Prasad Rathi , Crowne Elizabeth C , Burren Christine P

Introduction: Chromosome 18 rearrangements are postulated to be associated with short stature, of uncertain pathophysiology.Methods: Retrospective case review (short stature with chromosome 18 rearrangement), investigation for GH deficiency (peak GH <7 μg/l on glucagon or ITT, unless otherwise indicated) and determining response to GH treatment.Results: In 13 year six such cases were referred from the geneticists, mean ref...

ea0030p37 | (1) | BSPED2012

Long-term morbidity after traumatic brain injury in childhood: fatigue, impact on cognition, health related quality of life and abnormal GH status

Daskas Nikolaos , Miller Helen , Leonards Ute , Sharples Peta , Crowne Elizabeth

Objectives: To determine long-term functional outcome following traumatic brain injury (TBI) in childhood.Patients: Longitudinal study of 49 participants with TBI (21 mild, 28 moderate/severe TBI) and 16 healthy controls matched for age, gender and socioeconomic status. Age at TBI (median (range)) 11.8 (1–16) years; 17 were prepubertal, 16 peripubertal, 16 postpubertal. Age at study 19.7 (10–26) years, time post TBI 8.6 (5.8–10.8) years. A...

ea0095p51 | Late effects of cancer treatment | BSPED2023

Glucagon-like peptide-1 (GLP-1) receptor agonists as a new treatment option for hypothalamic obesity in the paediatric population: Preliminary data from a tertiary paediatric endocrine centre

Hawton Katherine , Chatterjee Sumana , Giri Dinesh , Crowne Elizabeth

Background: Hypothalamic obesity (HO) is defined as rapid weight gain, hyperphagia and lack of satiety due to physical hypothalamic destruction. HO does not usually respond to lifestyle modification and no pharmacotherapies are specifically approved for treating HO. Efficacy of glucagon-like peptide-1 (GLP-1) agonists, which suppress appetite via hypothalamic satiety centres, is uncertain in HO.Case series: We commenced ...

ea0085oc3.1 | Oral Communications 3 | BSPED2022

A rare form of ovotesticular difference of sex development (DSD) in combination with severe early-onset obesity due to MC4R mutation: clinical features and diagnostic challenges

Hawton Katherine , Narayan Kruthika , Hamilton-Shield Julian , Giri Dinesh , Crowne Elizabeth

Background: We describe a patient with 46XX ovotesticular difference of sex development (DSD) due to 46XX/69XXY gonadal mixoploidy, also an NR5A1 variant, who developed severe early-onset obesity and subsequently a pathogenic MC4R variant was identified.Case Presentation: A term Caucasian baby weighing 3.64kg with non-consanguineous parents presented with atypical genitalia (Prader Stage 2-3) with clitoromegaly, perineal urethral openin...

ea0066oc5.1 | Oral Communications 5 | BSPED2019

Project to develop BSPED UK standardised guidelines for sex hormone priming and glucagon stimulation testing (GST) in children and adolescents

Wei Christina , Musson Pauline , Clayton Peter , Dattani Mehul , Randell Tabitha , Crowne Elizabeth C

Background: The GST is commonly used in children and adolescents for the diagnosis of growth hormone (GH) deficiency. Evidence supports the use of sex steroid priming to improve diagnostic accuracy in GH provocation tests. This project, undertaken on behalf of the BSPED Clinical Committee, aims to identify current practice and develop consensus in sex hormone priming and GST protocols for the development of standardised UK protocols.Method: (1) Audit of ...

ea0039ep77 | Late effects of cancer treatment | BSPED2015

Impact of haematopoietic stem cell transplantation with total body irradiation on apparent bone mineral density in childhood leukaemia survivors

Wei Christina , Elson Ruth , Cox Rachel , Bradley Karin , Stevens Michael , Crowne Elizabeth

Background: Reduced bone mineral density (BMD) z-scores from Dual energy X-Ray absorptiometry (DEXA) have been reported in childhood HSCT survivors. However, BMD z-scores are unreliable in patients with short stature.Objective: To investigate the influence of HSCT/TBI on size-corrected BMD in childhood leukaemia survivors.Method: Post-pubertal leukaemia survivors (16–26 years) treated with HSCT/TBI (10–1...

ea0036oc3.4 | Oral Communications 3 | BSPED2014

Standard population screening for diabetes mellitus has low sensitivity in identifying diabetes in adult survivors of childhood bone marrow transplantation with total body irradiation

Wei Christina , Unsworth Rebecca , Davis Nikki , Bradley Karin , Cox Rachel , Stevens Michael , Crowne Elizabeth

Background: Adult survivors of childhood leukaemia treated with bone marrow transplantation and total body irradiation (BMT/TBI) have an increased risk of diabetes mellitus (DM) disproportionate to their level of adiposity or other recognised risk factors. Post prandial hyperglycaemia due to reduced β-cell reserve after irradiation will be missed by fasting glucose (FG) levels. However, the UK National Institute of Clinical Excellence (NICE) screening guidelines recommend...

ea0033oc1.4 | Oral Communications 1 | BSPED2013

Abnormal glucose homeostasis in survivors of childhood acute lymphoblastic leukaemia treated with bone marrow transplantation and total body irradiation is associated with reduced β-cell reserve and pancreatic volume

Wei Christina , Thyagiarajan Manigandan , Hunt Linda , Bradley Karin , Elson Ruth , Cox Rachel , Stevens Michael , Crowne Elizabeth

Background: Adult survivors of childhood acute lymphoblastic leukaemia (ALL) treated with bone marrow transplantation (BMT) and total body irradiation (TBI) have increased risk of impaired glucose tolerance (IGT) and diabetes mellitus (DM). Insulin resistance (IR) has been described, but effects of TBI on pancreatic growth and β-cell function have not been previously reported.Method: Two groups of childhood ALL survivors were studied: Group 1, treat...