A genetic approach to evaluation of short stature of undetermined cause. Issue 7 (July 2018)

• Record Type: Journal Article
• Authors: Murray, Philip G; Clayton, Peter E; Chernausek, Steven D
• Is Part Of: Lancet. Volume 6:Issue 7(2018)
• Page Start: 564
• Page End: 574
• Publication Date: 2018-07
• Subjects: Diabetes -- Periodicals; Endocrinology -- Periodicals; Endocrine glands -- Diseases -- Periodicals; 616.4
• DOI: 10.1016/S2213-8587(18)30034-2
• Languages: English
• ISSNs: 2213-8587

Abstract

Summary: Short stature is a common presentation to paediatric endocrinologists. After exclusion of major endocrine or systemic disease, most children with short stature are diagnosed based on a description of their growth pattern and the height of their parents (eg, familial short stature). Height is a polygenic trait and genome-wide association studies have identified many of the associated genetic loci. Here we review the application of genetic studies, including copy number variant analysis, targeted gene panels, and whole-exome sequencing in children with idiopathic short stature. We estimate 25–40% of children diagnosed with idiopathic short stature could receive a molecular diagnosis using these technologies. A molecular diagnosis for short stature is important for affected individuals and their families and might inform treatment decisions surrounding use of growth hormone or insulin-like growth factor 1 therapy.