Woods K A, Savage M O
St Bartholomew's Hospital, West Smithfield, London, UK.
Baillieres Clin Endocrinol Metab. 1996 Jul;10(3):371-87. doi: 10.1016/s0950-351x(96)80500-3.
Since the original description of LS by Laron in 1966, this rare condition has continued to assume an importance far beyond the number of affected cases as a unique model of GHR dysfunction. Recently, the potential of therapy with recombinant IGF-I has led to the recruitment and detailed study of patients from a heterogeneous genetic and geographical background and the realization that hereditary GH resistance is itself a heterogeneous condition, with considerable variation in clinical, biochemical and molecular features between patients. For the scientist, further study of the 'atypical' LS patient may lead to important insights into the signalling pathway between GH and IGF-I. For the clinician, the challenge lies in establishing the contribution of inherited forms of GH resistance to the group of children with idiopathic short stature, with the potential of offering therapy to these patients based on an understanding of the aetiological basis of their disorder.
自1966年拉伦首次描述拉伦综合征（LS）以来，这种罕见病症作为生长激素受体（GHR）功能障碍的独特模型，其重要性持续远超受累病例数量。最近，重组胰岛素样生长因子-I（IGF-I）治疗的潜力促使招募并详细研究了来自不同遗传和地理背景的患者，并且认识到遗传性生长激素抵抗本身是一种异质性病症，患者之间在临床、生化和分子特征方面存在相当大的差异。对于科学家而言，对“非典型”LS患者的进一步研究可能会对生长激素与IGF-I之间的信号通路带来重要见解。对于临床医生来说，挑战在于确定遗传性生长激素抵抗在特发性身材矮小儿童群体中的作用，以及基于对其病症病因基础的理解为这些患者提供治疗的可能性。
