Brief report: Impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function

Abstract

A patient in whom the sequence of the proinsulin gene was normal but plasma concentrations of proinsulin and one of the early products of proinsulin cleavage were high and plasma insulin concentrations were low is described. There was evidence of impaired processing of proopiomelanocortin, secondary hypocortisolism and hypogonadotropic hypogonadism.