RASopathies are a heterogeneous group of syndromes caused by germline mutations in genes encoding components of the RAS/MAPK pathway. Postnatal short stature is a cardinal feature of the RASopathies. Although the pathophysiology of these conditions is not fully understood to date, growth hormone insensitivity is one possibility, based on the observation of low IGF-1 values, generally preserved GH secretion and suboptimal growth response to recombinant human GH therapy. In this review, we will discuss the clinical and experimental evidence of GH insensitivity in patients with Noonan syndrome and other RASopathies, as well as their molecular basis.

RASopathies是由RAS / MAPK途径编码基因的种系突变引起的一组异类综合症。产后矮小是RASopathies的主要特征。尽管迄今尚未完全了解这些病症的病理生理学，但基于对低IGF-1值的观察，生长激素不敏感性是一种可能性，通常可保留GH分泌，并且对重组人GH治疗的生长反应欠佳。在这篇综述中，我们将讨论Noonan综合征和其他RASopathies患者中GH不敏感的临床和实验证据，以及它们的分子基础。