Novel genetic cause of idiopathic short stature.
10.6065/apem.2017.22.3.153
- Author:
Min Jae KANG
1
Author Information
1. Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea. mjkang@hallym.or.kr
- Publication Type:Review
- Keywords:
Idiopathic short stature;
Growth plate;
Gene sequencing
- MeSH:
Chondrocytes;
Extracellular Matrix;
Growth Hormone;
Growth Plate;
Insulin-Like Growth Factor I
- From:Annals of Pediatric Endocrinology & Metabolism
2017;22(3):153-157
- CountryRepublic of Korea
- Language:English
-
Abstract:
Traditionally, the growth hormone – insulin-like growth factor I (GH – IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH – IGF-I axis, can present as idiopathic short stature (ISS). This paper briefly discusses GHR and IGFALS. In addition, recent studies have shown that many factors, including paracrine signals, extracellular matrix, and intracellular mechanisms of chondrocytes, regulate the growth plate independent of the GH – IGF-I system. Rapid development of diagnostic technologies has enabled discovery of many genetic causes of ISS. This paper discusses 5 genes, SHOX, NPR2, NPPC, FGFR3, and ACAN, that may lead to better understanding of ISS.
