Vasques Gabriela A, Andrade Nathalia L M, Correa Fernanda A, Jorge Alexander A L
Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular (LIM25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular (LIM42), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Arch Endocrinol Metab. 2019 Nov-Dec;63(6):608-617. 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.
生长激素轴是生长的主要激素调节因子。生长激素（GH），也称为促生长激素，和胰岛素样生长因子1（IGF-1）是生长激素轴的关键组成部分。该轴已经被研究了很长时间，在过去十年中，关于某些分子如何促进或损害激素产生和作用的知识不断增加。大规模测序技术的进步扩大了已知基因以及其他一些可能影响GH-IGF1-骨骼途径的候选基因的范围。迄今为止，四十多个基因的缺陷与生长激素轴的损害有关。这些缺陷可影响从GH的分泌到IGF-1的生物利用度和作用。受影响的患者呈现出一大类与生长发育迟缓相关的异质性病症。在本综述中，我们重点描述过去十年中报道的GH-IGF轴基因缺陷。《内分泌与代谢档案》。2019年；63（6）：608 - 17。
