{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:21:36Z","timestamp":1790767296650,"version":"4.1.0"},"reference-count":18,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T00:00:00Z","timestamp":1644192000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all cases of KS in either KMT2D or KDM6A. KS can be suspected by phenotypic features, including infantile hypotonia, developmental delay, dysmorphic features, congenital heart defects, and others. Still, many of these features are not readily apparent in a newborn. Although neonatal hypoglycemia has been reported in 8% to 10% of patients with KS, the incidence and severity of hyperinsulinemic hypoglycemia (HH) is not well-studied. We present a full-term female infant with HH who was responsive to low-dose diazoxide. At 3 months of age, she was admitted for septic shock, worsening respiratory status, and severe pulmonary hypertension, requiring extracorporeal membrane oxygenation support. Her neonatal history was notable for hypotonia, dysphagia with aspiration requiring gastrostomy tube placement, and a cardiac defect\u2014hypoplastic aortic arch requiring aortic arch repair. She has characteristic facial features, including prominent eyelashes, long palpebral fissures, and a short nasal columella. Next-generation sequencing for HH revealed a de novo likely pathogenic missense variant in KDM6A gene: c.3479G\u2005&amp;gt;\u2005T, p.Gly1160Val that was absent from population databases. Genetic testing for causes of HH should include testing of the KS genes KMT2D and KDM6A. Early detection of the underlying genetic defect will help guide management as all reported HH cases associated with KS have been responsive to diazoxide. Affected infants with underlying cardiac conditions may be at higher risk of serious respiratory complications such as pulmonary hypertension.<\/jats:p>","DOI":"10.1210\/jendso\/bvac015","type":"journal-article","created":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T02:27:41Z","timestamp":1644373661000},"source":"Crossref","is-referenced-by-count":13,"title":["Novel <i>KDM6A<\/i> Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO"],"prefix":"10.1210","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7267-6603","authenticated-orcid":false,"given":"Maria V","family":"Salguero","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Adult and Pediatric Endocrinology, University of Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8686-9409","authenticated-orcid":false,"given":"Karen","family":"Chan","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics, University of California, San Diego, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0741-3567","authenticated-orcid":false,"given":"Siri Atma W","family":"Greeley","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Adult and Pediatric Endocrinology, University of Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umesh","family":"Dyamenahalli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Pediatric Cardiology, University of Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darrel","family":"Waggoner","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"del Gaudio","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Rajiyah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Adult and Pediatric Endocrinology, University of Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4151-2910","authenticated-orcid":false,"given":"Michelle","family":"Lemelman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Adult and Pediatric Endocrinology, University of Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2022,2,7]]},"reference":[{"issue":"2","key":"2022022814502862900_CIT0001","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmedgenet-2018-105625","article-title":"Kabuki syndrome: International consensus diagnostic criteria","volume":"56","author":"Adam","year":"2019","journal-title":"J Med Genet."},{"issue":"1","key":"2022022814502862900_CIT0002","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/s41436-018-0013-9","article-title":"Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals","volume":"21","author":"Yap","year":"2019","journal-title":"Genet Med."},{"key":"2022022814502862900_CIT0003","article-title":"Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 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