{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T16:26:20Z","timestamp":1768321580857,"version":"3.49.0"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,7,15]],"date-time":"2020-07-15T00:00:00Z","timestamp":1594771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Objective<\/jats:title><jats:p>Kabuki syndrome (KS), caused by pathogenic variants in <jats:italic>KMT2D<\/jats:italic> or <jats:italic>KDM6A<\/jats:italic>, is associated with hyperinsulinaemic hypoglycaemia (HH) in 0.3%\u20104% 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\u2010analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven new patients were identified with seven different pathogenic variants in <jats:italic>KDM6A<\/jats:italic> (n\u00a0=\u00a04) or <jats:italic>KMT2D<\/jats:italic> (n\u00a0=\u00a03). All presented with HH on the first day of life and were responsive to diazoxide. KS was diagnosed between 9\u00a0months and 14\u00a0years of age. In the meta\u2010analysis, 24 KS patients with HH had a significantly higher frequency of variants in <jats:italic>KDM6A<\/jats:italic> compared to 373 KS patients without HH (50% vs 11.5%, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.001), and <jats:italic>KDM6A<\/jats:italic>\u2010KS was more likely to be associated with HH than <jats:italic>KMT2D<\/jats:italic>\u2010KS (21.8% vs. 3.5%, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.001). Sex distribution and other phenotypic features did not differ between KS with and without HH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The higher incidence of HH in <jats:italic>KDM6A\u2010<\/jats:italic>KS compared to <jats:italic>KMT2D\u2010<\/jats:italic>KS indicates that <jats:italic>KDM6A<\/jats:italic> loss of function variants predispose more specifically to beta cell dysfunction compared to <jats:italic>KMT2D<\/jats:italic> variants. As difficulties to assign syndromic characteristics to KS in early infancy often lead to delayed diagnosis, genetic testing for KS should be considered in children with HH, especially in the presence of other extrapancreatic\/syndromic features.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14267","type":"journal-article","created":{"date-parts":[[2020,6,13]],"date-time":"2020-06-13T20:43:41Z","timestamp":1592081021000},"page":"346-354","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Comparative meta\u2010analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6596-0633","authenticated-orcid":false,"given":"Henrike","family":"Hoermann","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology University Children\u2019s Hospital D\u00fcsseldorf Medical 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