{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T03:37:11Z","timestamp":1789097831964,"version":"build-2803163510"},"reference-count":11,"publisher":"Endocrinology Research Centre","issue":"5","license":[{"start":{"date-parts":[[2022,7,20]],"date-time":"2022-07-20T00:00:00Z","timestamp":1658275200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>Kabuki syndrome is a rare hereditary disease characterized by distinctive facial features, skeletal abnormalities, mental retardation, developmental delay, and anomalies in multiple organ systems development.<\/jats:p><jats:p>Congenital hyperinsulinism is a rare manifestation of his Kabuki syndrome. However, early diagnosis is crucial to prevent neurological complications of hypoglycemia.<\/jats:p><jats:p>There are 2 types of Kabuki Syndrome depending on severity of symptoms. Kabuki syndrome Type 1 is associated with heterozygous mutations in gene KMT2D. Kabuki syndrome Type 2 is inherited in an X-linked manner. It\u2019s associated with heterozygous mutations in gene KDM6A and characterized by more severe course of the disease.<\/jats:p><jats:p>This paper presents 2 cases of children with congenital hyperinsulinism as the feature of Kabuki syndrome Type 1 and Type 2.<\/jats:p>","DOI":"10.14341\/probl13145","type":"journal-article","created":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T20:09:50Z","timestamp":1667851790000},"page":"91-96","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":3,"title":["Congenital hyperinsulinism as a part of Kabuki syndrome"],"prefix":"10.14341","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8187-947X","authenticated-orcid":true,"given":"A. R.","family":"Benina","sequence":"first","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1491-2460","authenticated-orcid":true,"given":"M. A.","family":"Melikyan","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5458","published-online":{"date-parts":[[2022,7,20]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"M\u0131s\u0131rl\u0131gil M, Y\u0131ld\u0131z Y, Ak\u0131n O, et al. A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome. J Clin Res Pediatr Endocrinol. 2021;13(4):452-455. doi: https:\/\/doi.org\/10.4274\/jcrpe.galenos.2020.2020.0065","DOI":"10.4274\/jcrpe.galenos.2020.2020.0065"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"B\u00f6gershausen N, Wollnik B. Unmasking Kabuki syndrome. Clin Genet. 2013;83(3):201-211. doi: https:\/\/doi.org\/10.1111\/cge.12051","DOI":"10.1111\/cge.12051"},{"key":"ref3","unstructured":"\u201cKabuki Syndrome Clinical Management Guidelines Management of Kabuki Syndrome A Clinical Guideline.\u201d"},{"key":"ref4","doi-asserted-by":"crossref","unstructured":"Gole H, Chuk R, Coman D. Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. Clin Pract. 2016;6(3):848. doi: https:\/\/doi.org\/10.4081\/cp.2016.848","DOI":"10.4081\/cp.2016.848"},{"key":"ref5","doi-asserted-by":"crossref","unstructured":"Boniel S, Szyma\u0144ska K, \u015amigiel R, Szcza\u0142uba K. Kabuki Syndrome\u2014Clinical Review with Molecular Aspects. Genes (Basel). 2021;12(4):468. doi: https:\/\/doi.org\/10.3390\/genes12040468","DOI":"10.3390\/genes12040468"},{"key":"ref6","doi-asserted-by":"crossref","unstructured":"Salguero M V, Chan K, Greeley SAW, et al. Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO. J Endocr Soc. 2022;6(4):468. doi: https:\/\/doi.org\/10.1210\/jendso\/bvac015","DOI":"10.1210\/jendso\/bvac015"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Yap KL, Johnson AEK, Fischer D, et al. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. Genet Med. 2019;21(1):233-242. doi: https:\/\/doi.org\/10.1038\/s41436-018-0013-9","DOI":"10.1038\/s41436-018-0013-9"},{"key":"ref8","doi-asserted-by":"crossref","unstructured":"Zarate YA, Zhan H, Jones JR. Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation. Mol Syndromol. 2012;3(4):180-184. doi: https:\/\/doi.org\/10.1159\/000342253","DOI":"10.1159\/000342253"},{"key":"ref9","unstructured":"Adam MP, Hudgins L, Syndrome HMK, et al. Kabuki Syndrome Synonyms: Kabuki Make-Up Syndrome, Niikawa-Kuroki Syndrome. GeneReviews. 2011."},{"key":"ref10","doi-asserted-by":"crossref","unstructured":"Hoermann H, El\u2010Rifai O, Schebek M, et al. Comparative meta\u2010analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia. Clin Endocrinol (Oxf). 2020;93(3):346-354. doi: https:\/\/doi.org\/10.1111\/cen.14267","DOI":"10.1111\/cen.14267"},{"key":"ref11","doi-asserted-by":"crossref","unstructured":"Subbarayan A, Hussain K. Hypoglycemia in Kabuki syndrome. Am J Med Genet Part A. 2014;164(2):467-471. doi: https:\/\/doi.org\/10.1002\/ajmg.a.36256","DOI":"10.1002\/ajmg.a.36256"}],"container-title":["Problems of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/viewFile\/13145\/10339","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T15:28:49Z","timestamp":1668439729000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/view\/13145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,20]]},"references-count":11,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,11,6]]}},"URL":"https:\/\/doi.org\/10.14341\/probl13145","relation":{},"ISSN":["2308-1430","0375-9660"],"issn-type":[{"value":"2308-1430","type":"electronic"},{"value":"0375-9660","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7,20]]}}}