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Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.

J. Clin. Endocrinol. Metab.. 2018; 
VajraveluMary Ellen,ChaiJinghua,KrockBryan,BakerSamuel,LangdonDavid,AlterCraig,De LeónDi
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摘要

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 β cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism.

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