{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T12:32:59Z","timestamp":1792672379918,"version":"4.5.0"},"reference-count":20,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic \u03b2 cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe an infant with congenital hyperinsulinism and hypopituitarism as a result of a mutation in FOXA2 and to determine the functional impact of the identified mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcome Measure<\/jats:title><jats:p>Difference in wild-type (WT) vs mutant Foxa2 transactivation of target genes that are critical for \u03b2 cell function (ABCC8, KNCJ11, HADH) and pituitary development (GLI2, NKX2-2, SHH).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Transactivation by mutant Foxa2 of all genes studied was substantially decreased compared with WT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report a mutation in FOXA2 leading to congenital hyperinsulinism and hypopituitarism and provide functional evidence of the molecular mechanism responsible for this phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1210\/jc.2017-02157","type":"journal-article","created":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T01:59:45Z","timestamp":1515635985000},"page":"1042-1047","source":"Crossref","is-referenced-by-count":43,"title":["Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2"],"prefix":"10.1210","volume":"103","author":[{"given":"Mary Ellen","family":"Vajravelu","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Diabetes, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinghua","family":"Chai","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes, Children\u2019s Hospital of Philadelphia, Philadelphia, 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