{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T01:01:29Z","timestamp":1773709289453,"version":"3.50.1"},"reference-count":17,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T00:00:00Z","timestamp":1758931200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01DK104942"],"award-info":[{"award-number":["R01DK104942"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Pathogenic variants in GATA6, GATA4, and PDX1 cause pancreatic hypoplasia or agenesis and early onset diabetes mellitus. There is a lack of information about long-term outcomes and clinical management of these complicated patients, including how best to approach their exocrine pancreatic insufficiency (EPI), weight gain, and glycemic management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Participants<\/jats:title>\n                    <jats:p>We investigated clinical features and treatment of patients with variants in GATA6, GATA4, and PDX1 identified through the US Monogenic Diabetes Registry. Data were self-reported or extracted from medical records.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Eleven children were studied. Pancreatic hypoplasia\/agenesis, EPI, gallbladder agenesis, and congenital heart defects were common in this cohort. Novel features were present, such as recurrent infections and epilepsy. All participants were born small for gestational age and many had difficulties with weight gain. Insulin treatment was discontinued and later reinstated for 3 infants. Glycemic control in nearly all patients was suboptimal with the mean hemoglobin A1c being 8.7, but only 1 episode of diabetic ketoacidosis was reported. Fasting and postprandial hypoglycemia were common. Eight of 11 children required pancreatic enzymes. Two children required enteral feedings to maintain nutritional balance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Children with GATA6, GATA4, and PDX1-related neonatal diabetes have labile, insulin-dependent diabetes mellitus and varying degrees of EPI caused by pancreatic hypoplasia\/agenesis. Intrauterine growth restriction and postnatal difficulties with weight gain are common but rates of diabetic ketoacidosis are low, which may in part be due to a lack of glucagon, an important driver of ketosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf473","type":"journal-article","created":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:43:56Z","timestamp":1756381436000},"page":"e1164-e1173","source":"Crossref","is-referenced-by-count":0,"title":["Children With Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA"],"prefix":"10.1210","volume":"111","author":[{"given":"Anna M","family":"Denson","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Tennessee Health Science Center , Memphis, TN 38163 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5701-1913","authenticated-orcid":false,"given":"Karen E","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago , Chicago, IL 60637 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9465-4870","authenticated-orcid":false,"given":"Lisa R","family":"Letourneau-Freiberg","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago , Chicago, IL 60637 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Balamurugan","family":"Kandasamy","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago , Chicago, IL 60637 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rochelle N","family":"Naylor","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago , Chicago, IL 60637 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hussein D","family":"Abdullatif","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Alabama at Birmingham , Birmingham, AL 35233 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W","family":"Benjamin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and the Duke Molecular Physiology Institute , Durham, NC 27710 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Cobry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Colorado, Barbara Davis Center for Diabetes , Aurora, CO 80045 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael S","family":"Freemark","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and the Duke Molecular Physiology Institute , Durham, NC 27710 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inas H","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Michigan Health , Ann Arbor, MI 48109 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0741-3567","authenticated-orcid":false,"given":"Siri Atma W","family":"Greeley","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago , Chicago, IL 60637 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,9,27]]},"reference":[{"issue":"8","key":"2026031619573617200_dgaf473-B1","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1111\/pedi.13426","article-title":"ISPAD clinical practice consensus guidelines 2022: the diagnosis and management of monogenic diabetes in children and adolescents","volume":"23","author":"Greeley","year":"2022","journal-title":"Pediatr Diabetes"},{"issue":"7","key":"2026031619573617200_dgaf473-B2","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1007\/s11892-018-1016-2","article-title":"Congenital diabetes: comprehensive genetic testing allows for improved diagnosis and treatment of diabetes and other associated features","volume":"18","author":"Letourneau","year":"2018","journal-title":"Curr Diab Rep"},{"issue":"8","key":"2026031619573617200_dgaf473-B3","doi-asserted-by":"crossref","first-page":"2888","DOI":"10.2337\/db14-0061","article-title":"GATA4 mutations are a cause of neonatal and childhood-onset diabetes","volume":"63","author":"Shaw-Smith","year":"2014","journal-title":"Diabetes"},{"issue":"1","key":"2026031619573617200_dgaf473-B4","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng.1035","article-title":"GATA6 haploinsufficiency causes pancreatic agenesis in 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