ESPE Abstracts

Background: Genomic imprinting is the process by which preferential methylation of one parental allele results in parent of origin specific expression of particular genes. Methylation is established during gametogenesis and is maintained throughout development. Alterations in any of the processes in the establishment and maintenance of methylation can lead to aberrant imprinting, which can result in either reactivation of the original silent allele or the sile...

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...

Introduction/Background: Non-invasive prenatal testing (NIPT) represents a major development for families affected by rare monogenic conditions by facilitating early prenatal diagnosis without the risks associated with traditional more invasive methods. For most rare diseases NIPT is only available clinically for paternally-inherited variants. One exception is in GCK and HNF4A diabetes, where the detection of a maternally or paternally inheri...

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...