{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T02:00:32Z","timestamp":1776304832516,"version":"3.50.1"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:00:00Z","timestamp":1776297600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:00:00Z","timestamp":1776297600000},"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":["Mol Cell Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pathogenic variants in the\n                      <jats:italic>HNF1B<\/jats:italic>\n                      gene cause a multi\n                    <\/jats:p>\n                    <jats:p>\n                      system disorder encompassing organ abnormalities\u2014primarily affecting the kidneys and pancreas\u2014as well as metabolic disturbances, collectively referred to as\n                      <jats:italic>HNF1B<\/jats:italic>\n                      -related disease. While maturity-onset diabetes of the young type 5 is a well-recognized manifestation, neonatal diabetes mellitus (NDM) associated with\n                      <jats:italic>HNF1B<\/jats:italic>\n                      is exceedingly rare, and has only been reported in patients harboring single nucleotide variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We describe two unrelated female children presenting with transient NDM caused by a complete\n                      <jats:italic>HNF1B<\/jats:italic>\n                      gene deletion. Both developed hyperglycemia within the first days of life requiring short-term insulin therapy, followed by spontaneous normalization of glycemia. However, their subsequent phenotypes diverged significantly. The first patient exhibited bilateral renal dysplasia while maintaining normal neurodevelopment. In contrast, the second patient developed later-onset cystic kidney disease, neurodevelopmental delay, and dysmorphic features, consistent with a broader 17q12 deletion syndrome spectrum. Although, in both cases, kidney abnormalities and extra-renal features (NDM, hypomagnesemia, hyperuricemia) were observed, both patients experienced a delay in diagnosis. On follow-up, serial oral glucose tolerance tests (OGTT), HbA1c assessments, and glucagon stimulation tests to date demonstrated preserved \u03b2-cell function, with the exception of hyperglycemia in 30\u201360 min of the extended OGTT in one patient.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These two cases represent the first report of transient NDM due to\n                      <jats:italic>HNF1B<\/jats:italic>\n                      deletion. Our findings broaden the molecular and clinical spectrum of\n                      <jats:italic>HNF1B<\/jats:italic>\n                      -related diabetes, and emphasize the importance of considering\n                      <jats:italic>HNF1B<\/jats:italic>\n                      defects in children with transient neonatal hyperglycemia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s40348-026-00234-3","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T01:35:25Z","timestamp":1776303325000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease \u2013 two case reports and a literature review"],"prefix":"10.1186","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9044-3830","authenticated-orcid":false,"given":"Marcin","family":"Ko\u0142buc","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142","family":"Bednarek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafa\u0142","family":"Motyka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Jarmoli\u0144ski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzena","family":"Michalak-Kloc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bodo B.","family":"Beck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Urba\u0144ska-Kosi\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcin","family":"Zaniew","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,4,16]]},"reference":[{"key":"234_CR1","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","volume":"31","author":"D Bockenhauer","year":"2016","unstructured":"Bockenhauer D, Jaureguiberry G (2016) HNF1B-associated clinical phenotypes: the kidney and beyond. 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