Mullis Primus-E
Paediatric Endocrinology, Diabetology and Metabolism, University Children's Hospital, Inselspital, Bern, Switzerland.
Endocr Dev. 2010;18:67-82. doi: 10.1159/000316128. Epub 2010 Jun 3.
It is becoming most clear that many genes are involved in controlling the regulation of growth. Ultimately however, at the level of growth hormone (GH), the relevant question may be not whether a patient is GH-deficient, but whether he is GH-responsive. As these disturbances can be divided into two gross categories, namely alterations causing subnormal GH secretion and/or those presenting with subnormal GH sensitivity/responsiveness, the main aim of this review is to focus on genes involved in growth regulation leading to short stature caused by an alteration of GH insensitivity/GH responsiveness; in other words, clinical circumstances where individually adapted GH replacement therapy may help to increase height velocity and eventually final height.
越来越清楚的是，许多基因参与控制生长调节。然而，最终在生长激素（GH）水平上，相关问题可能不是患者是否缺乏GH，而是他是否对GH有反应。由于这些紊乱可大致分为两大类，即导致GH分泌低于正常水平的改变和/或那些表现出GH敏感性/反应性低于正常水平的改变，本综述的主要目的是关注参与生长调节的基因，这些基因导致因GH不敏感/ GH反应性改变而导致身材矮小；换句话说，就是在个别情况下，适应性GH替代疗法可能有助于提高身高增长速度并最终增加最终身高的临床情况。
