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48th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Online, Virtual
24 Nov 2021 - 26 Nov 2021

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Oral Communications

Oral Communications 3

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...

ea0078oc3.2 | Oral Communications 3 | BSPED2021

Variable responses to sulfonylurea treatment in siblings from the same family with monogenic diabetes due to HNF1A mutation

Franklin Natasha , Hawton Katherine , Giri Dinesh

Background: Maturity onset diabetes of the young (MODY) is characterized by autosomal dominant inheritance, onset before 25 years of age, absence of β-cell autoimmunity, and sustained pancreatic β-cell function. HNF1A mutations account for 70% of MODY cases. Patients with HNF1A MODY are sensitive to sulfonylureas (SU) and can maintain optimal glycaemic control with SU rather than insulin. We describe 2 siblings from the same family with HNF1A</e...