Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency.
We describe two brothers with small size at birth, early-onset insulin-dependent diabetes, and pancreatic exocrine insufficiency. In contrast to the findings in pancreatic aplasia, their serum C-peptide and glucagon levels were measurable. These findings, in concert with their clinical courses, are consistent with the diagnosis of congenital pancreatic hypoplasia.
D000328:Adult; D002096:C-Peptide / Q000097:blood; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000175:diagnosis*; D005934:Glucagon / Q000097:blood; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D008297:Male; D010179:Pancreas / Q000002:abnormalities*
D002096:C-Peptide; D006680:HLA Antigens; D005934:Glucagon