Searchable abstracts of presentations at key conferences in endocrinology

ea0058p033 | Miscellaneous Endocrinology | BSPED2018

Novel HNF1Avariant associated with congenital hyperinsulinism in infancy and maturity onset diabetes of young (MODY 3) in later life

Parikh Ruchi , Didi Mohammed , Canham Natalie , Senniappan Senthil

Introduction: Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in neonates, infants and children with an incidence of 1/25000-1/50000 live births. HNF4A and HNF1A mutations lead to maturity onset diabetes of the young (MODY 1 and 3 respectively) with a potential for causing CHI in the newborn period. Whilst HNF4A mutations causing CHI is well known, reports on CHI due to HNF1A mutations are very limited.</...