Endocrine Abstracts

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...

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...