hrp0095p1-298 | GH and IGFs | ESPE2022

Use of PDE5 inhibitors as a potential treatment for isolated growth hormone deficiency caused by alternate splicing of GH1 gene.

Pandey Amit , Natalia Rojas Velazquez Maria

Mutations in the GH1 gene cause isolated growth hormone deficiency (IGHD) by affecting production, secretion, and stability of growth hormone as well as its binding to GHR. A smaller isoform of GH1 is inactive and is linked to IGHD. While studying the impact of small GH isoform, we noticed that cells with the short 17.5 kD version of GH looked different from the control cells. We found that the production of short GH isoform distorts the cell morphology, contributing to detrim...