Endocrine Abstracts

In this talk, we will describe the spectrum of genetic variants that affect height. We will differentiate between common genetic variants identified by genome-wide association studies which have very small effects on height versus rare genetic variants with larger effects causing monogenic causes of short stature. We will then review two specific genetic causes of short stature, mutations in the ACAN gene and NPR2 gene. These genes both affect growth at the growth plate. We will discuss clinical trials of agents targeting these genetic defects and pathways. We will then explore the utility of genetic testing in identifying an etiology of short stature in the clinical setting.