Endocrine Abstracts

Introduction: Activating mutations of Glucokinase (GCK) gene are described as a rare genetic aetiology of Congenital Hyperinsulinism (CHI), which can cause variable disease severity. However, cardiac anomalies such as aortic valve disease have not been reported as a feature of this genetic form of CHI. We describe two patients diagnosed with GCK-CHI and aortic valve disease.Case 1: A twelve-month-old female presented at ...