Jorge Alexander A L, Malaquias Alexsandra C, Arnhold Ivo J P, Mendonca Berenice B
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Horm Res. 2009;71(4):185-93. doi: 10.1159/000201106. Epub 2009 Mar 4.
Noonan syndrome (NS) is one of the most common syndromes transmitted by a mendelian mode. In recent years, germline mutations that affect components of the RAS-MAPK (mitogen-activated protein kinase) pathway were shown to be involved in the pathogenesis of NS and four rare syndromes with clinical features overlapping with NS: Leopard syndrome, cardio-facio-cutaneous syndrome, Costello syndrome and neurofibromatosis type 1. Several hormones act through receptors that stimulate the RAS-MAPK pathway, and therefore, NS and related disorders represent a remarkable opportunity to study the implication of the RAS-MAPK pathway in different endocrine systems. Additionally, children with NS frequently are referred to the endocrinologist because of short stature, delayed puberty and/or undescended testes in males. In this paper, we review the diagnostic, clinical and molecular aspects of NS and NS-related disorders.
努南综合征（NS）是最常见的孟德尔遗传模式传递的综合征之一。近年来，影响RAS-MAPK（丝裂原活化蛋白激酶）通路成分的种系突变被证明与NS的发病机制以及四种临床特征与NS重叠的罕见综合征有关：豹斑综合征、心面皮肤综合征、科斯特洛综合征和1型神经纤维瘤病。几种激素通过刺激RAS-MAPK通路的受体发挥作用，因此，NS及相关疾病为研究RAS-MAPK通路在不同内分泌系统中的作用提供了一个显著的机会。此外，NS患儿常因身材矮小、青春期延迟和/或男性隐睾而被转诊至内分泌科医生处。在本文中，我们综述了NS及NS相关疾病的诊断、临床和分子方面。
