Abstract
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.
Highlights
The somatotropic axis is the main hormonal regulator of growth
Growth hormone (GH) is secreted by somatotropes of the anterior pituitary gland, in a pulsatile manner, under stimulation of growth hormone-releasing hormone (GHRH), produced in the hypothalamus, and ghrelin (GHS), which is secreted by the gastric cells
JAK2 phosphorylation leads to activation of different intracellular pathways, leading to direct metabolic effects or regulating the gene transcription, which may involve a family of signal transducers and activators of transcription (STATs)
Summary
The somatotropic axis is the main hormonal regulator of growth. Growth hormone (GH), known as somatotropin, and insulin-like growth factor 1 (IGF-1) are the key components of the somatotropic axis. New GH-IGF axis defects this area are long-standing and, in 1929, researchers hypothesized that some genes would be responsible for pituitary development and function [5]. After the description of the classic and most frequent genetic defects associated with GH deficiency, many other genes have been associated with congenital hypopituitarism, most of them in a small subset of patients with complex phenotypes or PSIS.
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