Searchable abstracts of presentations at key conferences in endocrinology

ea0051p015 | Gonadal, DSD and reproduction | BSPED2017

Consensus for UK principles of management of adolescents and infants with Disorders of Sex Development (DSD)

Matthews Rebecca , Crowne Elizabeth C , Skae Mars

Disorders of sex development (DSD) are a group of conditions caused by atypical development of chromosomal, gonadal or anatomical sex which pose complex, long-term diagnostic, investigative and management challenges requiring expert teams and close collaboration with families and peer groups. The lack of nationally agreed clinical standards for the management of DSD has been recognised by the British Society of Paediatric Endocrinology and Diabetes, and these are now in develo...

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...

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 ...

ea0078oc3.1 | Oral Communications 3 | BSPED2021

Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome (ROHHAD-NET): Case series & learning points

Hawton Katherine , Hilliard Tom , Langton-Hewer Simon C , Burren Christine , Crowne Elizabeth C , Hamilton-Shield Julian P , Giri Dinesh

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neuro-endocrine tumour (ROHHAD-NET) is a rare syndrome associated with high morbidity and mortality. With no clear aetiology, diagnosis is based on constellation of clinical features. Management is supportive, although various immunosuppressive agents have been used with variable benefits. We present 3 cases of ROHHAD with heterogeneous presentations and clinical feat...