Update on new GH-IGF axis genetic defects

• Published in: Archives of Endocrinology and Metabolism Vol. 63; no. 6; pp. 608 - 617
• Main Authors: Vasques, Gabriela A, Andrade, Nathalia L M, Correa, Fernanda A, Jorge, Alexander A L
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Endocrinologia e Metabologia 01.11.2019; Brazilian Society of Endocrinology and Metabolism
• Subjects: Genotype; Growth Disorders - genetics; Growth Disorders - metabolism; Growth hormone; Human Growth Hormone - deficiency; Human Growth Hormone - genetics; Humans; IGF; Insulin-Like Growth Factor I - genetics; Insulin-Like Growth Factor I - metabolism; Mutation - genetics; Phenotype; Review; short stature; Signal Transduction; somatotropic axis
• ISSN: 2359-3997; 2359-4292
• DOI: 10.20945/2359-3997000000191

The somatotropic axis is the main hormonal regulator of growth. Growth hormone (GH), also known as somatotropin, and insulin-like growth factor 1 (IGF-1) are the key components of the somatotropic axis. This axis has been studied for a long time and the knowledge of how some molecules could promote or impair hormones production and action has been growing over the last decade. The enhancement of large-scale sequencing techniques has expanded the spectrum of known genes and several other candidate genes that could affect the GH-IGF1-bone pathway. To date, defects in more than forty genes were associated with an impairment of the somatotropic axis. These defects can affect from the secretion of GH to the bioavailability and action of IGF-1. Affected patients present a large heterogeneous group of conditions associated with growth retardation. In this review, we focus on the description of the GH-IGF axis genetic defects reported in the last decade. Arch Endocrinol Metab. 2019;63(6):608-17.