Browsing Centre for Endocrinology by Subject "Hyperinsulinism"

Now showing items 1-3 of 3

    • Insulinomatosis: new aspects. 

      Christ, E; Iacovazzo, D; Korbonits, M; Perren, A (2023-06-01)
      Endogenous hyperinsulinemic hypoglycemia (EHH) is a rare condition with an incidence of approximately 4-6 per million person-years and comprises a group of disorders causing hyperinsulinemic hypoglycemia without exogenous ...

    • MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. 

      Iacovazzo, D; Flanagan, SE; Walker, E; Quezado, R; de Sousa Barros, FA; Caswell, R; Johnson, MB; Wakeling, M; Brändle, M; Guo, M (2018-01-30)
      The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ...

    • Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. 

      Giri, D; Vignola, ML; Gualtieri, A; Scagliotti, V; McNamara, P; Peak, M; Didi, M; Gaston-Massuet, C; Senniappan, S (2017-11-15)
      Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated ...