{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T18:56:20Z","timestamp":1790189780720,"version":"4.1.0"},"reference-count":15,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,8,1]]},"abstract":"<jats:p>Congenital diarrheal disorders are a group of rare enteropathies that often present with life-threatening diarrhea in the first weeks of life. Enteric anendocrinosis, characterized by a lack of intestinal enteroendocrine cells due to recessively inherited mutations in the Neurogenin-3 (NEUROG3) gene, has been described as a cause of congenital malabsorptive diarrhea. Diabetes mellitus also is typically associated with NEUROG3 mutations, be it early onset or a later presentation. Here we report a case of a 16-year-old male patient with severe malabsorptive diarrhea from birth, who was parenteral nutrition dependent and who developed diabetes mellitus at 11 years old. To the best of our knowledge, only 9 cases of recessively inherited NEUROG3 mutations have been reported in the literature to date. Our patient presents with several remarkable differences compared with previously published cases. This report can contribute by deepening our knowledge on new aspects of such an extremely rare disease.<\/jats:p>","DOI":"10.1542\/peds.2016-2210","type":"journal-article","created":{"date-parts":[[2017,7,19]],"date-time":"2017-07-19T09:40:07Z","timestamp":1500457207000},"source":"Crossref","is-referenced-by-count":22,"title":["A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant <i>Neurogenin-3<\/i>"],"prefix":"10.1542","volume":"140","author":[{"given":"Marta","family":"Germ\u00e1n-D\u00edaz","sequence":"first","affiliation":[{"name":"Divisions of Nutrition,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolanda","family":"Rodriguez-Gil","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hospital 12 de Octubre, Madrid, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Cruz-Rojo","sequence":"additional","affiliation":[{"name":"Endocrinology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Charbit-Henrion","sequence":"additional","affiliation":[{"name":"INSERM, UMR 1163, Laboratory of Intestinal Immunity, Paris, France;"},{"name":"Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9 and Institut Imagine, Paris, France;"},{"name":"Department of Pediatric Gastroenterology, H\u00f4pital Necker-Enfants Malades, Paris, France; and"},{"name":"GENIUS group (GENetically ImmUne mediated enteropathieS) from ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology, and Nutrition)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Cerf-Bensussan","sequence":"additional","affiliation":[{"name":"INSERM, UMR 1163, Laboratory of Intestinal Immunity, Paris, France;"},{"name":"Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9 and Institut Imagine, Paris, France;"},{"name":"GENIUS group (GENetically ImmUne mediated enteropathieS) from ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology, and Nutrition)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Manzanares-L\u00f3pez Manzanares","sequence":"additional","affiliation":[{"name":"Gastroenterology, Department of Pediatrics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Manuel","family":"Moreno-Villares","sequence":"additional","affiliation":[{"name":"Divisions of Nutrition,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2017,8,1]]},"reference":[{"issue":"4","key":"2021120916431348800_B1","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1097\/MPG.0b013e3181d135ef","article-title":"Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.","volume":"50","author":"Berni Canani","year":"2010","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"3","key":"2021120916431348800_B2","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s11894-011-0188-6","article-title":"Recent progress in congenital diarrheal disorders.","volume":"13","author":"Canani","year":"2011","journal-title":"Curr Gastroenterol Rep"},{"issue":"5","key":"2021120916431348800_B3","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/nrgastro.2015.44","article-title":"Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.","volume":"12","author":"Canani","year":"2015","journal-title":"Nat Rev Gastroenterol Hepatol"},{"issue":"3","key":"2021120916431348800_B4","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1056\/NEJMoa054288","article-title":"Mutant neurogenin-3 in congenital malabsorptive diarrhea.","volume":"355","author":"Wang","year":"2006","journal-title":"N Engl J Med"},{"issue":"4","key":"2021120916431348800_B5","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.2337\/db10-1008","article-title":"Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3.","volume":"60","author":"Rubio-Cabezas","year":"2011","journal-title":"Diabetes"},{"issue":"7","key":"2021120916431348800_B6","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1210\/jc.2011-0029","article-title":"Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence.","volume":"96","author":"Pinney","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"7","key":"2021120916431348800_B7","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1016\/j.humpath.2008.12.016","article-title":"A paucity of colonic enteroendocrine and\/or enterochromaffin cells characterizes a subset of patients with chronic unexplained diarrhea\/malabsorption.","volume":"40","author":"Ohsie","year":"2009","journal-title":"Hum Pathol"},{"issue":"5","key":"2021120916431348800_B8","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1111\/ped.12169","article-title":"Extremely rare cause of congenital diarrhea: enteric anendocrinosis.","volume":"55","author":"Sayar","year":"2013","journal-title":"Pediatr Int"},{"issue":"12","key":"2021120916431348800_B9","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1097\/PAS.0000000000000287","article-title":"Features of gastric and colonic mucosa in congenital enteropathies: a study in histology and immunohistochemistry.","volume":"38","author":"Treetipsatit","year":"2014","journal-title":"Am J Surg Pathol"},{"issue":"5","key":"2021120916431348800_B10","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1111\/ped.12783","article-title":"Mutant neurogenin-3 in a Turkish boy with congenital malabsorptive diarrhea.","volume":"58","author":"\u00dcnl\u00fcsoy Aksu","year":"2016","journal-title":"Pediatr Int"},{"issue":"12","key":"2021120916431348800_B11","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1101\/gad.985002","article-title":"Neurogenin 3 is essential for the proper specification of gastric enteroendocrine cells and the maintenance of gastric epithelial cell identity.","volume":"16","author":"Lee","year":"2002","journal-title":"Genes Dev"},{"issue":"2","key":"2021120916431348800_B12","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.ydbio.2004.03.013","article-title":"Neurogenin 3-expressing progenitor cells in the gastrointestinal tract differentiate into both endocrine and non-endocrine cell types.","volume":"270","author":"Schonhoff","year":"2004","journal-title":"Dev Biol"},{"issue":"4","key":"2021120916431348800_B13","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1073\/pnas.97.4.1607","article-title":"Neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas.","volume":"97","author":"Gradwohl","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"issue":"12","key":"2021120916431348800_B14","doi-asserted-by":"crossref","first-page":"2360","DOI":"10.1023\/B:DDAS.0000007875.72256.e8","article-title":"IgA and IgG tissue transglutaminase antibody prevalence and clinical significance in connective tissue diseases, inflammatory bowel disease, and primary biliary cirrhosis.","volume":"48","author":"Bizzaro","year":"2003","journal-title":"Dig Dis Sci"},{"issue":"4","key":"2021120916431348800_B15","first-page":"319","article-title":"Etiological diagnosis of villous atrophy [in French]","volume":"21","author":"Patey-Mariaud De Serre","year":"2001","journal-title":"Ann Pathol"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/doi\/10.1542\/peds.2016-2210\/1064955\/peds_20162210.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/doi\/10.1542\/peds.2016-2210\/1064955\/peds_20162210.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T04:47:50Z","timestamp":1639111670000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/140\/2\/e20162210\/38637\/A-New-Case-of-Congenital-Malabsorptive-Diarrhea"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,1]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,8,1]]},"published-print":{"date-parts":[[2017,8,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2016-2210","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,1]]},"article-number":"e20162210"}}