Searchable abstracts of presentations at key conferences in endocrinology

ea0085oc7.5 | Oral Communications 7 | BSPED2022

Monogenic obesity is probably not so rare - experience from a large tier 3 paediatric weight management service

Hawton Katherine , Hickingbotham Hannah , Hamilton-Shield Julian , Giri Dinesh

Background: Monogenic obesity is generally considered to only be responsible for a small proportion of genetic obesity with the vast majority attributable to polygenic obesity. Previous studies estimate that monogenic obesity accounts for less than 5% of obesity in Caucasian populations.Aims and method: To identify prevalence and clinical characteristics of monogenic obesity, we reviewed clinical notes of 219 patients currently, or recently (within 24 mo...

ea0095p3 | Adrenal 1 | BSPED2023

Case series of non-classical congenital adrenal hyperplasia in childhood

Hickingbotham Hannah , Olivier Jessica , Ramaswamy Priya , Chowdhury Nazma , Wei Christina

Introduction: Evidence in the management of children with non-classical congenital adrenal hyperplasia (NCCAH) is limited. We describe the clinical presentations and treatment of NCCAH patients under a tertiary paediatric endocrine centre.Results: Data collected [reported in median(ranges)] identified 10(7M,3F) cases of NCCAH [21-hydroxylase deficiency(21-OHD)(n=9), 11-deoxycortisol deficiency(n=1)], ag...

ea0095p138 | Obesity 2 | BSPED2023

Genetics of early onset obesity: Initial data from a tier 3 paediatric weight management service

Hawton Katherine , Hickingbotham Hannah , Fitzgerald Amy , Hamilton-Shield Julian , Giri Dinesh

Introduction: A proportion of severe obesity is due to monogenic inheritance, however access to genetic testing is often limited which may underestimate prevalence. We report our data obtained via the Rare Obesity Advanced Diagnosis™ genetic testing program established to diagnose rare genetic causes of obesity.Methods: 49 patients (22 male) under the care of a tier 3 paediatric weight management service with early-...