hrp0098fc1.6 | Diabetes and Insulin | ESPE2024

Comprehensive rescreening of the known congenital hyperinsulinism genes provides a new genetic diagnosis for 18% of the Finnish cohort

M E Männistö Jonna , A L Houghton Jayne , Keskinen Päivi , Hopkins Jasmin , Raivo Joose , Otonkoski Timo , Huopio Hanna , E Flanagan Sarah

Background: Congenital hyperinsulinism (HI) is a group of insulin secretion disorders with highly heterogeneous genetic aetiologies, which may significantly impact on treatment and follow-up. Genetic diagnosis is unsolved in up to 50% of the individuals, but the benefits of retesting including all the recent genetic discoveries has not been previously assessed.Aim: We examined the effectiveness of rescreening the known H...