Ann Pediatr Endocrinol Metab.  2017 Sep;22(3):153-157. 10.6065/apem.2017.22.3.153.

Novel genetic cause of idiopathic short stature

• Kang MJ

• KMID: 2396133
• DOI: http://doi.org/10.6065/apem.2017.22.3.153

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.

Keyword

Idiopathic short stature; Growth plate; Gene sequencing

MeSH Terms

Chondrocytes
Extracellular Matrix
Growth Hormone
Growth Plate
Insulin-Like Growth Factor I
Growth Hormone
Insulin-Like Growth Factor I

Reference

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