{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T02:47:13Z","timestamp":1761965233989},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0302_abs_001_w2aab3b7b6b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0302_abs_002_w2aab3b7b6b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case Presentation<\/jats:title>\n                  <jats:p>In this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (<jats:italic>HNF4A<\/jats:italic>) gene in both families. Pathogenic variants of <jats:italic>HNF4A<\/jats:italic> gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0302_abs_003_w2aab3b7b6b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Genetic testing for CHI is strongly recommended if neonatal hypoglycemia persists<jats:bold>.<\/jats:bold> A family history of MODY or presumed type II diabetes can support that the affected gene is <jats:italic>HNF4A<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0302","type":"journal-article","created":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T23:47:08Z","timestamp":1602373628000},"page":"527-530","source":"Crossref","is-referenced-by-count":4,"title":["Detection of hepatocyte nuclear factor 4A(<i>HNF4A<\/i>) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother"],"prefix":"10.1515","volume":"34","author":[{"given":"Elpis-Athina","family":"Vlachopapadopoulou","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Growth and Development , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eirini","family":"Dikaiakou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Growth and Development , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anatoli","family":"Fotiadou","sequence":"additional","affiliation":[{"name":"2nd Department of Paediatrics, University of Athens , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Popi","family":"Sifianou","sequence":"additional","affiliation":[{"name":"Neonatal Department , General and Maternity Hospital \u201cElena Venizelou\u201d , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth Barbara","family":"Tatsi","sequence":"additional","affiliation":[{"name":"Laboratory of molecular Endocrinology, Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics , National and Kapodistrian University of Athens, Medical School, \u201cAghia Sophia\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amalia","family":"Sertedaki","sequence":"additional","affiliation":[{"name":"Laboratory of molecular Endocrinology, Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics , National and Kapodistrian University of Athens, Medical School, \u201cAghia Sophia\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Kanaka-Gantenbein","sequence":"additional","affiliation":[{"name":"Laboratory of molecular Endocrinology, Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics , National and Kapodistrian University of Athens, Medical School, \u201cAghia Sophia\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanos","family":"Michalacos","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Growth and Development , \u201cP. & A. Kyriakou\u201d Children\u2019s Hospital , Athens , Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"key":"2023040101452965887_j_jpem-2020-0302_ref_001_w2aab3b7b6b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"G\u03cbemes, M, Rahman, SA, Kapoor, RR, Flanagan, S, Houghton, JAL, Misra, S, et al. Hyperinsulinemic hypoglycemia in children and adolescents: recent advances in understanding of pathophysiology and management. Rev Endocr Metab Disord 2020. https:\/\/doi.org\/10.1007\/s11154-020-09548-7. In press.","DOI":"10.1007\/s11154-020-09548-7"},{"key":"2023040101452965887_j_jpem-2020-0302_ref_002_w2aab3b7b6b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Arnoux, JB, Verkarre, V, Saint-Martin, C, Montravers, F, Brassier, A, Valayannopoulos, V, et al. Congenital hyperinsulinism: current trends in diagnosis and therapy. 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