Endocrine Abstracts

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...

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...

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 ...

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...