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hrp0092rfc15.4 | Late Breaking Abstracts | ESPE2019

Clinical and Genetic Characterization of 148 Patients with Persistent or Transient Congenital Hyperinsulinism: A Population-Based Study in Finns

Männistö Jonna , Maria Maleeha , Raivo Joose , Kuulasmaa Teemu , Otonkoski Timo , Huopio Hanna , Laakso Markku

Context: Major advances have been made in the genetics and classification of congenital hyperinsulinism (CHI; OMIM #256450).Objective: To examine the molecular and clinical characteristics of the Finnish patients with persistent and transient CHI.Design: A cross-sectional study with the register data and targeted sequencing of 104 genes affecting glucose metabolism.<p class="ab...

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ePoster

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...

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ESPE Abstracts

Clinical and Genetic Characterization of 148 Patients with Persistent or Transient Congenital Hyperinsulinism: A Population-Based Study in Finns

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

BiosciAbstracts