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SUN-269 Novel Mutation of the HNF1A Gene in a Patient with Congenital Hyperinsulinism

Background. Hyperinsulinism (HI) is diagnosed based on biochemical evidence of hypoglycemia associated with increased insulin secretion/action. Few individuals with HI harbor mutations in the HNF1A gene; they are hypoglycemic and responsive to diazoxide early in life, but a few of them develop diabe...

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Veröffentlicht in:J Endocr Soc
Hauptverfasser: Marinescu, Andreea, De Luca, Francesco, Suarez, Elizabeth
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2019
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552777/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-269
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