矮小症614次激发试验检测生长激素反应结果分析

本文分析２００例矮小症患儿经６１４次药物（精氨酸、左旋多巴、可乐宁、生长激素释放激素）及夜睡眠激发试验后生长激素反应的结果。其中１６６例系精氨酶、左旋多巴（或可乐宁）、夜睡眠三种试验进行匹配观察。结果显示生长激素反应峰值于各种试验出现时间先后不一，峰值以可乐宁及夜睡眠最高，最为敏感。     

408例矮小儿童病因分析

４０８例矮小儿童病因分析结果：生长激素缺乏症（ＧＨＤ）１３２例,居各类之首;其次为体质性生长发育迟缓９６例;家族性矮小７５例;先天遗传性疾病５４例;甲状腺机能低下２１例;性早熟９例;慢性疾病致矮小１１例;精神社会性矮小６例;宫内发育迟缓４例。ＧＨＤ中有围产期因素（臀位、足先露、出血、产钳、窒息等）者占６５．９１％,与国外报道２．３垂体性侏儒有异常分娩史相似。     

1496例矮小症病因分析及基于IGF-1水平生长激素缺乏症诊断预测模型的建立

目的探讨矮小症患儿的病因及胰岛素样生长因子(IGF)-1与生长激素(growth hormone,GH)水平之间的关系,建立基于IGF-1水平的简易GH缺乏(GHD)诊断预测模型。方法矮小症住院患儿1 496例,采用胰岛素低血糖法和精氨酸法测定GH分泌状态,根据体格检查及实验室检查分析病因;Logistic逐步多元回归模型建立基于IGF-1的GHD诊断预测模型。结果 GHD659例(44.05%),特发性矮小504例(33.69%),家族性矮小165例(11.03%),体质性青春期发育延迟35例(2.33%),余为甲状腺功能减低症、宫内发育迟缓、Turner综合征、多种垂体激素缺乏症等引起的矮小症。比较GHD与非GHD两组患儿潜在的影响因素,体质量、BMI、身高-SDS、ALT/AST/AKP、TG/Tch、IGF-1、IGFBP-3等的差异有统计学意义(P<0.05)。设GHD的概率为P,经Logistic逐步多元回归模型拟合如下:LN[P/(1-P)]=-2.0193+0.0683×年龄+0.1439×BMI+0.021×ALT-0.0021×IGF-1-0.1526×IGFBP-3。结论内分泌疾病是矮小症最多见的病因,但GH激发试验的水平与多种体格和生化指标有关,因此GHD诊断需要综合考虑;基于IGF-1拟合的简易模型对GHD诊断有较准确的预测价值,可用于门诊筛查。     

矮小症睡眠各时相生长激素水平观察：附17例报告

本文通过对17名矮小症患儿和7名对照组小儿在脑电图监测下,测定夜睡眠中各睡眠时相生长激素(GH)分泌水平,并和药物激发试验结果比较,以简述夜睡眠中GH水平对矮小症病因诊断的临床意义。 对象和方法 一、对象 矮小症(患者组)17名中男11名,女8名;平均年龄11.4±3.6岁;体态匀称无畸形,智能正常,身高低于同年龄、性别健康儿童均数两个标准差,且身高增长每年<5cm,骨龄延迟≥2岁,临床     

矮小症病因及临床特征分析

目的探讨矮小症的病因及临床特点。方法回顾分析1995年5月到2017年7月治疗的2 075例矮小症患儿的临床资料,分析病理性矮小和正常变异性矮小的病因及分布频率,分析生长激素缺乏症(GHD)、特发性矮小(ISS)、体质性生长延迟(CDG)和家族性矮小(FSS)的临床特征差异,分析严重矮小(身高SDS≤-3)及一般性矮小(身高SDS-3)的病因差异。结果在2 075例诊断为矮小症的患儿中,1 719例(82.84%)为病理性矮小,其中GHD(38.60%)和ISS(22.02%)较为多见。356例(17.16%)为正常变异性矮小,FSS、CDG分别占10.70%和6.46%。4种常见儿童矮小症(GHD、ISS、CDG和FSS)的性别比、初诊年龄、身高标准差比值(SDS)、体质指数(BMI)、骨龄、骨龄延迟的差异均有统计学意义(P0.01)。4种儿童矮小症均男性多于女性。GHD组身高SDS最低,CDG组最高;GHD组BMI最高,而CDG和ISS组则较低;GHD组骨龄延迟最多,而CDG组最少。严重矮小组中,完全性生长激素缺乏症、多垂体激素缺乏症、小于胎龄儿、特纳综合征、甲状腺功能减退症、Russell-Silver综合征的比例高于一般性矮小组;而部分性生长激素缺乏症、ISS、FSS、CDG的比例低于一般性矮小组。结论矮小症病因复杂,分析病因及临床特征有助于临床诊断和治疗。     

矮小症患儿药物激发试验采血方法改进

矮小症患儿药物激发试验采血方法改进山东医科大学附属医院儿科（２５００１２）张岩，董俊华，陈景娥目前矮小症患儿生长激素（ＧＨ）分泌功能的测定，仍然依赖于２种以上生理或药物激发试验的ＧＨ峰值来判定。这些试验需多次静脉采血，使患儿难以承受，试验难以完成，我...     

生长激素激发试验及头颅CT诊断矮小症

矮小症病因繁多复杂,早期诊断、及时治疗十分重要。为此在矮小症病人中采用生长激素（GH）激发试验及头颅CT检查进行临床病因分析。对象和方法一、刘象：矮小儿童来自儿科内分泌门诊及住院病人（已排除糖尿病、甲减、软骨发育不良、佝楼病等疾病引起的矮'J．'）。105例中男78例,女27例;年龄5～18a;身高均低于同龄、同性别正常儿童万ZS,体形匀称无畸形,智力正常。二、方法：卫．详细询问病史、家族史;2、体格检查;均在SAn。～gAin专人用身长计测身高．直角规测量指距、乳距作者单位;（董俊华、张兰英、魏伟）;（王建南;（女童…     

身材矮小女童364例细胞遗传学及遗传因素分析

目的探讨染色体异常和身高的多基因遗传因素在身材矮小女童中对矮小身材产生的作用。方法1.染色体分析:取患儿外周血1mL,接种于1640培养液中,培养72h,行外周血淋巴细胞G显带染色体核型分析;2.多基因遗传因素分析:根椐双亲的平均身高计算儿童的遗传身高(靶身高),分析靶身高的分布特点,比较靶身高与实际身高的一致性比例。结果364例中染色体异常83例(22.80%)。其中以45,XO和46,X,i(Xq)为主,二者占70%。靶身高分布左移,76例靶身高低于2个标准差(-2s),与实际身高一致性为20.88%。染色体异常者中7例靶身高低于-2s,与实际身高一致性为8.43%。结论染色体异常是女童身材矮小的一个重要原因,应加强对身材矮小女童的染色体检查。父母平均身高低是造成女童身材矮小的另一重要原因。     

儿童矮小症应用生长激素的长期安全性

生长激素(GH)于1956年首先从人垂体中分离出,其生物化学结构直到1972年才阐明.重组DNA技术和基因工程方法,实现了人生长激素(hGH)的大规模生产,使hGH普遍利用成为可能.文章综述生长激素在儿童生长激素缺乏症、慢性肾功能不全、Turner综合征、Prader-Willi综合征、小于胎龄儿持续矮小、特发性矮小、矮小同源异型盒基因(SHOX)缺陷疾病中的应用方法和安全性.提示重组hGH用于儿童的安全性令人满意,但也需注意有潜在风险的特殊群体.     

采用PedsQL量表对矮小症儿童的生存质量分析

目的：了解矮小症儿童的生活质量及心理社会功能与正常身高儿童是否存在差异。方法：采用PedsQL量表对2011年6月至2012年6月间53名5~18岁诊断为矮小症的儿童及其家长或监护人进行调查,79名4~17岁健康儿童作为对照组。结果：PedsQL儿童自评量表评估显示矮小组总评分明显高于对照组 （25.3±11.2 vs 21.1±10.3,P0.05）。结论：矮小症儿童在心理社会功能发育的健全程度上落后于正常身高儿童。     

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??Objective??To detect pathogenic genes of short stature with unknown etiology by a targeted next generation sequencing panel to analyze the correlation between genotypes and clinical phenotypes. Methods??A total of 77 children diagnosed with unexplained short stature were enrolled for the study. These children were treated in Ruijin Hospital of Shanghai Jiao Tong University from 2007 to 2015. To search for genetic variation in 187 candidate genes which were associated with growth?? we constructed a targeted next generation sequencing panel encompassing the coding regions of 187 genes. According to ACMG Guidelines??the sites of variation were determined. Sanger sequencing was used to verify the suspected pathogenic genes variation. The relationship between genotype and clinical phenotype was analyzed. Results??Including 5 pathogenic variants?? one likely pathogenic variant and one variant of uncertain significance?? we identified 7 heterozygous variants of 7 cases in 77 cases of short stature with unknown etiology. A pathogenic variant p.D2407fs of ACAN gene was found in a case with advanced bone age. There were 3 reported pathogenic variants?? including p.A72G?? p.I282V and p.P491S of PTPN11 gene?? which were diagnosed as Noonan syndrome. A case carrying known pathogenic variant COL2A1??p.R904C?? was diagnosed as Stickler syndrome. We still got one likely pathogenic variant COMP??p.D401N???? which could cause multiple epiphyseal dysplasia. There was a familial short stature of delayed bone age carrying a variant??p.S289Y?? of uncertain significance??in which the genotype was in accordance with the clinical phenotype. Conclusion??The ACAN gene defection is associated with the idiopathic short stature with advanced bone age. The likely pathogenic variant COMP??p.D401N?? may cause multiple epiphyseal dysplasia. The newly-found heterozygous varians??p.S289Y?? of GHSR gene may result in short stature??which needs further function verification.     

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目的调查肥胖及矮小儿童自我意识水平,探讨其与正常儿童自我意识方面的差异。方法 2008年8月至2008年12月用Piers-Harris儿童自我意识量表对湖南省长沙市7所中学中86例肥胖及69例矮小儿童进行心理健康调查。结果肥胖儿童在行为、躯体外貌、合群、焦虑及自我意识总分得分均低于全国常模水平,差异有统计学意义(P<0.05或0.01);肥胖儿童在智力与学校及幸福与满足两个分量表得分与全国常模水平的差异无统计学意义(P均>0.05)。矮小儿童在行为、躯体外貌、幸福与满足、合群及自我意识总分得分均低于全国常模水平,差异有统计学意义(P<0.05或0.01);矮小儿童在智力与学校表现及焦虑两个分量表得分与全国常模水平差异无统计学意义(P均>0.05)。结论肥胖及矮小儿童自我意识水平较正常同龄儿童低,且其自我意识水平高低程度不一。青少年的自我意识水平与躯体疾病密切相关,有必要在医学治疗的基础上加入相应的心理干预措施以促进其身心健康。     

Helicobacter pylori infection in patients with idiopathic short stature

BACKGROUND: Some investigators have recently described an association between Helicobacter pylori infection and children with short stature. In the present study, we aimed to evaluate children with short stature with different etiologies. METHODS: This study evaluated short patients aged from 1 to 16 years. These patients were divided into a growth hormone deficient short stature group (n = 27) and an idiopathic short stature group (n = 14). A control group included children with normal growth and no abdominal pain (n = 47). Anti-H. pylori antibodies were measured in each group (total of 88). RESULTS: The antibody positivity rates for each group were as follows: growth hormone deficient short stature group, 7.4%; idiopathic short stature group, 28.6%; and control group, 6.4%. The H. pylori antibody positivity rate in the idiopathic short stature group was significantly higher than in the control group. CONCLUSION: Our findings suggest an association between H. pylori infection and idiopathic short stature.     

人矮小同源盒基因在身材矮小中的研究进展

儿童身材矮小是儿科内分泌常见病,现已证实人矮小同源盒基因(SHOX基因)的缺失和突变是儿童Leri-Weill综合征、Turner综合征及特发性身材矮小和其他具有矮小表型疾病的分子遗传学基础,SHOX基因缺陷的临床表型具有明显的异质性,早期发现SHOX基因的缺陷对矮小症的诊断和治疗具有重要的参考价值和指导意义.     

Castleman disease in a child with short stature

We report a 14‐year‐old boy with Castleman disease in this article. He complained of short stature, and his body height was 133.8 cm (<3rd percentile; z score ?4.5). There was marked delay in the appearance of secondary sexual characteristics. He was found to have a remittent fever and a lower mid‐abdominal tumor. Blood test revealed microcytic hypochromic anemia, thrombocytosis, polyclonal hypergammaglobulinemia, hyperfibrinogenemia, and elevated erythrocyte sedimentation rate. The serum IL‐6 and C‐reactive protein levels were increased. The mass was found to be mixed hyaline vascular and plasma cell type of Castleman disease through a pathological examination. Lymph nodes affected by Castleman disease cause overproduction of IL‐6. It decreases IGF‐1, IGFBP‐3 and serum testosterone levels. As a result of tumorectomy, his short stature and delay in the development of secondary sexual characteristics were improved.     

Children with short‐limbed short stature in pediatric endocrinological services in Japan

Short‐limbed short stature is a heterogeneous condition that can result from many diseases such as bone disorder, metabolic disease, and multiple malformation syndrome. We conducted a questionnaire survey of council members of the Japanese Society of Pediatric Endocrinology and doctors of affiliated hospitals in 2010 to investigate short‐limbed short stature. Among 91 hospitals, responses were obtained from 61 hospitals (67% response rate). This study also examined data of 193 short‐limbed short stature patients, among whom FGFR3‐related chondrodysplasia such as achondroplasia (n = 109; 56.5%) was found the most frequently. Second to achondroplasia, hypochondroplasia (n = 47; 24.4%) was the most frequently observed. Along with achondroplasia and hypochondroplasia, 31 patients with disorders of 13 other kinds and six undiagnosed patients were identified. Genetic testing for hypochondroplasia was conducted for only 27.7% of all hypochondroplasia patients, although hypochondroplasia is a heterogeneous condition with many causes, only one of which is FGFR3 mutation. We conducted a genetic analysis of 25 patients who had been clinically diagnosed as having “hypochondroplasia”. In these patients, other diseases such as acromicric dysplasia, geleophysic dysplasia, and Aarskog–Scott syndrome were included in addition to FGFR3‐related hypochondroplasia (n = 10). Clinical diagnosis of each disorder causing short‐limbed short stature is difficult. Therefore, not only clinical diagnosis but also genetic diagnosis play an important role in the diagnosis of short‐limb short stature. Diagnostic strategies must be created for each disorder.     

Managing expectations in the child of short stature with no underlying cause

Idiopathic short stature is a common reason for referral to the general paediatric or endocrine clinic. It can negatively impact the quality of life for the child and young person, extending into adulthood for some. However, these children are healthy individuals and treatment is not usually indicated. Whilst those with constitutional delay in growth and puberty can be given hormonal supplementation to induce puberty, there is no treatment available in the UK for the remaining children and young people as growth hormone is not approved for idiopathic short stature. It is important to emphasise to the child, young person and family that they are following a normal pattern of growth to reduce the perception that there is a problem. Growth charts plotted with bone age and a target range for family size are useful for predicting adult height and managing patient and parental expectations.     

身材矮小儿童523例病因分析

目的探讨身材矮小儿童的病因。方法矮小儿童共523例,其中男365例(69.79%),女158例(30.21%);平均年龄10.91岁。对其进行全面的病史采集和体格检查及相关实验室检查。结果生长激素缺乏症115例占21.99%;体质性青春发育延迟100例占19.12%;家族性矮小97例占18.55%;特发性矮小79例占15.11%,余为甲状腺功能减低症、宫内发育迟缓、Turner综合征、多种垂体激素缺乏症等引起的矮小症。结论矮小儿童中,内分泌疾病所致矮小占大多数,其中以生长激素缺乏症最为多见。对部分临床表现不典型的甲状腺功能减低症需通过实验室检查才能确诊。对矮小患儿应明确病因,给予对因治疗。     

Chromosomal anomalies in patients with short stature

BACKGROUND: The incidence of chromosomal anomalies in patients with short stature (SS) was studied in order to determine the value of routine karyotyping in this population. METHODS: This study was a retrospective evaluation of 972 patients (719 females and 253 males) with SS. Chromosomal analysis was performed on cultured peripheral lymphocytes. RESULTS: The incidence of chromosome aberrations in males was 2.77% (7/253) and in females 9.8% (71/719). Several groups were made according to clinical features and familial antecedents of SS. We observed different incidence rates of chromosomal anomalies among groups of patients, mainly in females. The incidence in the group without familial antecedents was 18.89%, however, in females with familial antecedents it was 4.45%. In females with isolated SS we detected karyotype anomalies in the 3.98%, while in patients with phenotypic features, amenorrhoea and SS the incidence was 77.78%. In females the most frequent anomaly was Turner syndrome, present in 55 patients (77.46%). CONCLUSION: Karyotype analysis is recommended for all girls with unexplained SS and associated abnormalities. In females with isolated SS a cost-benefit analysis must be done in each case.