López-Bermejo A, Buckway C K, Rosenfeld R G
Department of Pediatrics, Oregon Health Sciences University, 3181 SW Sam Jackson Park Road, Portland, OR 97201-3098, USA.
Trends Endocrinol Metab. 2000 Mar;11(2):39-49. doi: 10.1016/s1043-2760(99)00226-x.
Our understanding of the physiology of the growth hormone-insulin-like growth factor (GH-IGF) axis has been characterized by remarkable advances in the past decade, with clarification of genetic defects in the development of somatotropes, GH secretion and action, and IGF synthesis and action. Combined efforts of research in this area and the development of animal models of growth retardation have also indicated new genetic abnormalities that might prove to cause short stature in humans. Genetic defects, both established and hypothetical, are reviewed, and a pragmatic clinical approach to the genetic investigation of short-statured patients is presented.
在过去十年中，我们对生长激素 - 胰岛素样生长因子（GH - IGF）轴生理学的理解取得了显著进展，明确了生长激素细胞发育、GH分泌与作用以及IGF合成与作用方面的基因缺陷。该领域的研究与生长发育迟缓动物模型的开发共同努力，还发现了一些可能导致人类身材矮小的新的基因异常情况。本文对已确定的和假设的基因缺陷进行了综述，并提出了针对身材矮小患者进行基因研究的实用临床方法。
