Endocrine Abstracts

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...

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...

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-...