hrp0086p1-p550 | Perinatal Endocrinology P1 | ESPE2016

Persistent Ketotic Hypoglycemia as an Atypical Presentation of Heterozygous HNF4A Mutation

von Oetting Julia , Mitchell John , Cloutier Daphne , Yau Daphne

Background: Heterozygous loss-of-function HNF4A mutations are known to lead to monogenic diabetes, and in infants to macrosomia and hyperinsulinemic hypoglycemia. We are reporting a patient with a heterozygous HNF4A mutation (c.997C>T p.ARG333Cys) presenting with persistent ketotic hypoglycemia.Case report: In a 38 weeksÂ’ gestation infant (birth weight 4.1 kg, pregnancy complicated by insulin-requiring gestational diabetes), hy...