{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:18:22Z","timestamp":1789431502244,"version":"build-2803163510"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T00:00:00Z","timestamp":1648512000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T00:00:00Z","timestamp":1648512000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Endocr Disord"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Congenital generalized lipodystrophy (CGL) is a clinically heterogeneous disorder characterized by near total absence of adipose tissue along with metabolic complications. Diabetes mellitus developed from CGL usually present between ages 15 and 20\u2009years, and there are few reports in neonate.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>In this report, we described a rare clinical presentation of CGL in a 12-day-old Chinese female neonates with hyperglycemia, hyperlipidemia, and subsequently appeared diabetes, hepatomegaly and fatty liver. The two clinical-exome sequencing identified heterozygous null mutations (c.793C\u2009&gt;\u2009T and c.565G\u2009&gt;\u2009T) in BSCL2 gene which was inherited from father and mother respectively. To date, it was the firstly reported CGL patient with neonatal onset diabetes. The neonate was treated with antibiotic, insulin and deeply hydrolyzed formula milk to significantly decrease FBG and serum trigylcerides levels.\u00a0<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our case report analyzes the causes of early onset diabetes may relate with the locus of BSCL2 gene mutations and infection induction. It also suggests the importance of early identification, genetic analysis, and symptomatic treatment in the CGL, which are essential for improving the prognosis of children.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12902-022-00992-x","type":"journal-article","created":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T09:32:02Z","timestamp":1648546322000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: a case report"],"prefix":"10.1186","volume":"22","author":[{"given":"Yuan","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenchao","family":"Hong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,29]]},"reference":[{"key":"992_CR1","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.mrrev.2019.03.005","volume":"781","author":"SA Craveiro","year":"2019","unstructured":"Craveiro SA, Ferreira LC, Lima JG, et al. The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy [J]. Mutat Res. 2019;781:30\u201352. https:\/\/doi.org\/10.1016\/j.mrrev.2019.03.005.","journal-title":"Mutat Res"},{"issue":"9","key":"992_CR2","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1038\/nrendo.2015.123","volume":"11","author":"N Patni","year":"2015","unstructured":"Patni N, Garg A. Congenital generalized lipodystrophies--new insights into metabolic dysfunction [J]. Nat Rev Endocrinol. 2015;11(9):522\u201334. https:\/\/doi.org\/10.1038\/nrendo.2015.123.","journal-title":"Nat Rev Endocrinol"},{"issue":"2","key":"992_CR3","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1210\/jcem-14-2-193","volume":"14","author":"W Berardinelli","year":"1954","unstructured":"Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases [J]. 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Hum Mol Genet. 2011;20(15):3022\u201330. https:\/\/doi.org\/10.1093\/hmg\/ddr205.","journal-title":"Hum Mol Genet"},{"issue":"7","key":"992_CR9","doi-asserted-by":"publisher","first-page":"2320","DOI":"10.2337\/db13-0729","volume":"63","author":"L Liu","year":"2014","unstructured":"Liu L, Jiang Q, Wang X, et al. Adipose-specific knockout of SEIPIN\/BSCL2 results in progressive lipodystrophy [J]. Diabetes. 2014;63(7):2320\u201331. https:\/\/doi.org\/10.2337\/db13-0729.","journal-title":"Diabetes"},{"issue":"Suppl 2","key":"992_CR10","doi-asserted-by":"publisher","first-page":"S317","DOI":"10.1007\/s10545-008-0899-5","volume":"31","author":"HU Shirwalkar","year":"2008","unstructured":"Shirwalkar HU, Patel ZM, Magre J, et al. Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene [J]. 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The patient\u2019s guardian provided written informed consent for the publication of this case report on behalf of the patient.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"83"}}