Mutations in GATA6, GATA4 and PDX1 cause congenital diabetes and pancreatic hypoplasia (PH) or agenesis. We investigated clinical features and treatment of 10 PH patients through the University of Chicago National Monogenic Diabetes Registry. Data was self-reported or extracted from medical records. Similar to previous cohorts, congenital heart defects, gallbladder agenesis, and exocrine pancreatic insufficiency were often present, whereas features such as recurrent infections and epilepsy have not been reported previously (Figure 1). Weight gain and glycemic control were often poor, yet there were no episodes of DKA over 110 patient-years (Figure 2). Close multi-subspecialty follow-up of these complex patients may improve frequent difficulties with weight gain and highly labile blood sugars.


A.M. Denson: None. M. Freemark: Research Support; Self; Rhythm Pharmaceuticals, Inc. I.H. Thomas: None. H. Abdullatif: None. J.B. Nogueira: None. R. Benjamin: None. L.R. Letourneau: None. R.N. Naylor: None. S.W. Greeley: None.


American Diabetes Association (1-17-JDF-008 to S.A.W.G.); National Institutes of Health (R01DK104942, P30DK020595, UL1TR002389)

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