Endocrine Abstracts

Introduction: The hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common cause of hyperinsulinemic hypoglycaemia (HH), caused by activating mutations in GLUD1 [which encodes the mitochondrial enzyme glutamate dehydrogenase (GDH)].Methods: We describe phenotypic variations in three patients from 3 non-related families with HI/HA syndrome due to GLUD1 mutation.Results: Patient 1, a 10-year-old Cau...

Introduction: Anti-thyroid medications are the first line therapy for children and young people with Grave’s disease (GD). Some studies have shown remission rates up to 40–50%; however long-term follow up studies have reported much lower remission rates in children compared to adults.Aim: To review the long-term follow up and management of adolescents with Grave’s disease in a single tertiary centre in the UK.Methods...