【摘要】 目的检测矮小儿童下丘脑-垂体及其胰岛素样生长因子(IGF-1)生长轴(GHRH-GH-IGF-1)功能,了解矮小儿童的发病因素及确定下丘脑-垂体及其IGF轴功能缺陷病因分类。方法矮小儿童30例。用统一印制的矮小儿童表格记录其临床特征。对矮小儿童进行甲状腺功能测定;用胰岛素+左旋多巴行生长激素(GH)刺激试验;放射免疫法测定血清IGF-1和血清胰岛素样生长因子结合蛋白-3(IGFBP-3)水平;同时行患儿骨龄、垂体增强MRI扫描、染色体核型分析、性激素测定。根据矮小症诊断标准和2004年Rosenfeld RG和GHRH-GH-IGF-1轴缺陷不同,将矮小儿童进行病因定位和分类。结果矮小儿童30例中,下丘脑-垂体及其IGF轴功能缺陷12例,占40%,其中肯定生长激素缺乏(GHD)4例,怀疑生长激素不敏感综合征2例,可疑GHD 6例。Turner′s综合征2例,占6.67%;体质性青春期延迟2例,占6.67%;特发性矮小14例,占46.6%。磁共振发现垂体微腺瘤2例;垂体发育不良12例。结论1.矮小儿童所占比例最大的为特发性矮小,其次为下丘脑-垂体及其IGF轴功能缺陷。2.IGF-1水平和IGFBP-3水平与生长激素刺激试验测定生长激素水平不一致,考虑存在生长激素抵抗和受体缺陷。3.矮小儿童可能存在先天性垂体发育异常,致使垂体分泌生长激素不足。更多还原

【Abstract】 Objective To detect the functional abnormalities of growth hormone(GH)-insulin-like growth factor-1(IGF-1) in children with short stature,and determine etiological types and functional defects of hypothalamic-pituitary axis and IGF-1 in children with short stature.Methods Thirty cases of short stature from department of endocrinology were hospitalized and recorded an integrated analysis of clinical history with uniform tables.Thyroid hormone were detected.The provocative testing of insulin + L-Dopa were carried.The serum level of IGF-1 and IGF-binding protein-3(IGFBP-3) were measured with radio-immunological method.Bone ages,hypothalamic-pituitary MRI scan,karyotypic analysis and the level of gonadotropin hormone were evaluated.According to diagnosis criterion of short statures in 2004 and Rosenfeld RG on the defects in GH-IGF-1,children with short stature were divided by orientation and etiology.Results There were 12 cases with functional abnormalities of GHRH-GH-IGF-1 in 30 cases of short stature,including isolated growth hormone deficiency(GHD) 4 cases,growth hormone insensitivity syndrome 2 cases and suspicion GHD 6 cases.Turner′s syndrome 2 cases and constitutional delay in pubertal maturation 2 cases,idiopathic short stature 14 cases.MRI scan showed pituitary neoplasm 2 cases and decreased pituitary volume 12 cases.Conclusions 1.The most proportion of patients with short stature are idiopathic short stature.The second are functional defects of hypothalamic-pituitary IGF-1 axis.2.GH resistance and its receptor defects are existed,because of difference of serum level of GH from IGF-1 and IGFBP-3.3.Hypothalamic-pituitary on MRI scan showes that pituitary volume decreases and may have congenital GH deficiency.更多还原