From diarrhea to obesity in prohormone convertase 1/3 deficiency: age-dependent clinical, pathologic, and enteroendocrine characteristics

RHJ Bandsma, C Sokollik, R Chami… - Journal of clinical …, 2013 - journals.lww.com
Background: Prohormone convertases play a pivotal role in the activation of biologically
inactive hormones. Congenital defects in the EE axis, such as PC1/3 deficiency, have been
rarely reported and their pathophysiological mechanisms are largely unknown. Study: EE
function and pathology was evaluated in 4 males (1, 2, 7, and 10 y old) from 2 families with
PC1/3 deficiency at a university children's hospital. Clinical course, pathology analysis
including immunohistochemistry for PC1/3, PC2, and glucagon-like peptide 1 (GLP-1) and …