hrp0092p1-211 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Characteristics of Children with Kabuki Syndrome and Hyperinsulinemic Hypoglycemia

Hoermann Henrike , El-Rifai Omar , Schebek Martin , Brusgaard Klaus , Bachmann Nadine , Bergmann Carsten , Mayatepek Ertan , Christesen Henrik , Meissner Thomas , Kummer Sebastian

Background: Kabuki syndrome (KS) is a rare multiple congenital malformation and intellectual disability syndrome. KS is caused by pathogenic variants in the genes KMT2D or KDM6A. In 0.3-4% of patients, KS is reported to be associated with hyperinsulinemic hypoglycemia. The objective of this study was to characterize the clinical, biochemical and molecular data of children with KS and hyperinsulinemic hypoglycemia.<s...

hrp0086p1-p215 | Diabetes P1 | ESPE2016

The Influence of ß-Cell Autoimmunity on Cystic Fibrosis Related Diabetes Mellitus – A DPV Registry Analysis

Wurm Michael , Prinz Nicole , Konrad Katja , Laubner Katharina , Kieninger Dorothee , Kapellen Thomas , Wiemann Dagobert , Schebek Martin , Lilienthal Eggert , Smaczny Christina , Witsch Michael , Bauer Maria , Holl Reinhard W.

Background: Knowledge on the role of diabetes antibodies in CF related diabetes mellitus (CFRD) is scarce.Objective and hypotheses: We aim to inquire the relevance of ß-cell autoimmunity in CFRD.Methods: The German/Austrian/Luxembourgian diabetes registry DPV was searched for CFRD patients. 878 individuals were analyzed by multivariable regression models.Results: 8.7% of patients with CFRD in our cohort ...