IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction

Abstract

We demonstrate somatotrope neurosecretory hyperfunction in IGSF1-deficient humans and mice. These observations define a hitherto uncharacterized role for IGSF1 in somatotropes and indicate that patients with IGSF1 mutations should be evaluated for long-term consequences of increased GH exposure.