Background and Objective: Kabuki syndrome (KS), caused by pathogenic variants in KMT2D or KDM6A, is associated with hyperinsulinaemic hypoglycaemia (HH) in 0.3%-4% of patients. We characterized the clinical, biochemical and molecular data of children with KS and HH compared to children with KS without HH in a multicentre meta-analysis. Methods: Data of seven new and 17 already published children with KS and HH were compared to 373 recently published KS patients without HH regarding molecular and clinical characteristics. Results: Seven new patients were identified with seven different pathogenic variants in KDM6A (n = 4) or KMT2D (n = 3). All presented with HH on the first day of life and were responsive to diazoxide. KS was diagnosed between 9 months and 14 years of age. In the meta-analysis, 24 KS patients with HH had a significantly higher frequency of variants in KDM6A compared to 373 KS patients without HH (50% vs 11.5%, P
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Hoermann, H., El-Rifai, O., Schebek, M., Lodefalk, M., Brusgaard, K., Bachmann, N., … Kummer, S. (2020). Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia. Clinical Endocrinology, 93(3), 346–354. https://doi.org/10.1111/cen.14267
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