儿童矮小症112例病因分析

目的探讨儿童身材矮小的病因。方法对112例矮小症儿童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（GHO）25例,占22．3％;家族性矮小20例,占17．9％;体质性青春发育延迟15例,占13．4％;特发性矮小14例,占12．5％;余为性早熟、甲状腺功能减低症、宫内发育迟缓、Turner综合征等引起的矮小症。结论内分泌异常仍然是儿童矮小的主要病因。     

3~14岁矮小症患儿的病因研究

目的：分析3~14岁矮小儿童的病因，为该类患儿的诊断提供依据。方法回顾性分析徐州医学院附属医院儿科医院内分泌科3年内收治的198例矮小症患儿的病史、体格检查、相关实验室检查。结果本组病例中导致患儿生长迟缓的病因有14种，主要病因有生长激素缺乏症（ GHD）75例（37.88％），特发性矮身材（ ISS）43例（21.72％），青春发育延迟（CDGP）20例（10.10％），性早熟（SP）13例（6.56％）。结论导致生长迟缓的病因繁多，以 GHD、ISS、CDGP 最为常见。     

矮身材56例病因分析

目的探讨矮身材的病冈,为临床诊治提供参考依据。方法对56例矮身材患者进行全面的病史采集和体格检查。结果特发性矮身材26例,占46．4％（包括家族性矮小12例和体质性生长发育延迟10例）;生长激素缺乏症8例,占14．3％;T1]rner综合征lO例,占17．9％;甲状腺功能减低症4例,占7．I％;其他如性早熟、宫内发育迟缓等引起的矮小症。结论引起矮身材的病因多种多样,主要为特发性矮小症,临床应尽早给予治疗。     

儿童矮小症病因及临床诊治研究分析

目的 儿童矮小症病因及临床诊治研究分析。方法 纳入我院2016年2月1日至2022年9月1日收治的110例矮小症儿童的临床资料进行回顾性分析。结果 入组矮小症儿童男性55.45%,女性44.55%,平均年龄（7.91±2.69）岁。完全性生长激素缺乏症（GHD）40.00%,部分性GHD43.64%,特发性身材矮小（ISS）和家族性矮小症(FSS)13.64%,体质性生长和青春期延迟0.91%,Turner综合征1.82%。GHD组和ISS+FSS组对比年龄均值、性别构成、BMI均值无明显差异（P> 0.05）。GHD组和ISS+FSS组对比骨龄落后（实际年龄-骨龄）平均值更大（P <0.05）。BMI与骨龄落后值相关系数为-0.356(P <0.01)。激发试验峰值出现时间空腹（1.8%）、30 min(10.0%)、60 min(49.1%)、90 min(29.1%)、120 min(10.0%)。结论 GHD是矮小症的主要病因。GHD常见骨龄落后,但骨龄正常或者超前也可能存在GHD。BMI与骨龄有相关性,BMI越大可能存在骨龄正常或超前。胰岛素和可乐定激发试验...     

生长激素结合蛋白与特发性矮小

特发性矮小症（ISS）是一种暂时尚无明确原因的矮身材,发病机制未完全阐明。生长激素（GH）结合蛋白浓度的改变能引起生长障碍,可能与特发性矮小症有一定关系。目前关于生长激素结合蛋白在特发性矮小症中的变化研究不多,为进一步探讨其与ISS的关系,本文对生长激素结合蛋白的来源、分类、生理作用、影响因素、检测方法及在ISS中的变化简述如下。     

生长激素-胰岛素样生长因子轴功能检测在矮小症儿童病因诊断中的意义

目的 通过检测矮小症患儿生长激素(GH)-胰岛素样生长因子(IGF)轴功能,探讨其在矮小症病因诊断中的意义.方法 50例矮小症患儿采用精氨酸激发试验和可乐定激发试验检测血清生长激素(GH)水平,同时检测其血清胰岛素样生长因子-1(IGF-1)和胰岛素样生长因子结合蛋白-3(IGFBP-3)水平,根据GH和IGF-1检测结果,对矮小症儿童进行病因分类:(1)GH、IGF-1皆缺乏,为生长激素缺乏症(GHD);(2)GH正常但IGF-1缺乏,为GH不敏感综合征(GHIS);(3)GH缺乏但IGF-1正常,为可疑GHD;(4)GH和IGF-1皆正常,为特发性矮小(ISS).结果 50例矮小症患儿中,GHD 8例(占16％),怀疑GHIS 1例(占2％),可疑GHD 7例(占14％),ISS 34例(占68％).结论 通过检测GH-IGF轴功能,可对矮小症进行病因诊断.矮小症中最多是ISS,其次是GH-IGF轴功能缺陷.     

儿童矮小262例病因分析

目的探讨本地区儿童矮小的病因及干预。方法回顾性分析262例身高儿童矮小的身高、骨龄、生长激素水平、甲状腺功能及微量元素等指标。结果262例儿童矮小中，内分泌异常所致的矮小占首位（38，55％，101／262），其中生长激素缺乏性矮小（GHD）38例，性早熟22例；体质延迟性矮小67例，男女发病比例为2.75；遗传性矮小35例；特发性矮小33例。67例体质延迟性矮小患儿的病因：食欲不振41例，睡眠不足29例，活动过多23例，微量元素缺乏36例。结论内分泌异常仍然是矮小的主要原因。     

重组人生长激素对儿童生长激素缺乏症和特发性矮小症的效果评价

目的分析对儿童生长激素缺乏症(GHD)和特发性矮小症(ISS)实施重组人生长激素(rhGH)治疗的临床疗效。方法 20例生长激素缺乏症患儿作为生长激素缺乏症组, 20例特发性矮小症患儿作为特发性矮小症组。所有患儿均给予重组人生长激素治疗。观察比较两组患儿治疗3、6个月后的身高增值和生长速度变化情况、治疗前后胰岛素样生长因子-1(IGF-1)水平变化情况以及用药期间不良反应发生情况。结果生长激素缺乏症组患儿治疗3、6个月后的身高增值和生长速度分别为(12.88±2.14)cm和(9.23±0.55)cm/年、(12.84±2.60)cm和(11.00±0.94)cm/年,均明显优于特发性矮小症组的(9.03±1.88)cm和(8.63±0.44)cm/年、(9.88±2.30)cm和(10.27±0.93)cm/年,差异均具有统计学意义(P<0.05)。治疗3、6个月后,生长激素缺乏症组患儿的胰岛素样生长因子-1水平分别为(320.33±62.00)、(340.73±65.00)μg/L,均明显高于特发性矮小症组(269.86±61.02)、(287.30±55.30)μg/L,差异具有统计学意义(P<0.05)。生长激素缺乏症组患儿不良反应发生率10.00%低于特发性矮小症组的20.00%,但差异无统计学意义(χ2=0.7843, P=0.3758<0.05)。结论重组人生长激素对于改善儿童矮身材有明显的效果,尤其对儿童生长激素缺乏症的治疗效果更明显,不良反应较少,值得在临床上推广和应用,胰岛素样生长因子-1有助于疗效和安全性的评估。     

生长激素促生长作用的疗效观察

目的 观察国产基因重组生长激素（r-hGH)的促生长作用。方法 对11例矮小症儿童作用r-hGH，对2例真性性早熟患儿联合应用r-hGH和促性腺激素释放激素类似物（GnRHa)，治疗3个月，比较其治疗前后的生长速率（GV）和身高标准差得分（HtSDS)。结果 经治疗，各类矮小症儿童的GV和HtSDS均有显著提高，其中生长激素缺乏症患儿提高最显著；性早熟组儿童联用GnRHa和r-hGH治疗时的GV略高于未用药时自然GV，其中1例联用时GV明显高于单用GnRHa时GV。结论 r-hGH对各类矮小症患儿和性早熟儿童均有促生长作用。     

矮小症患儿144例病因及生长激素激发实验结果分析

目的探讨矮小症儿童的病因,对生长激素激发实验结果及峰值出现时间加以分析,探讨简化实验流程可行性。方法回顾性分析我院2010年3月至2012年3月间于小儿内分泌门诊就诊且临床资料完整的矮小症儿童144例,对其临床病史、体格检查及生长激素激发实验结果进行分析研究,明确病因。结果 114例患儿中,引起矮小症的病因主要有生长激素缺乏症、特发性矮小,构成比分别为70.8%、23.6%。生长激素激发试验峰值出现时间以30~90min出现最多,占76.4%,0min出现占21%,120min出现最少,占8.3%。结论矮小原因很多,生长激素缺乏症最为多见,及时明确病因,寻求最佳治疗手段非常重要。生长激素激发试验峰值出现时间以30~90min出现最多,0min出现也不少,占21%,其原因可能为患儿实验前空腹时间过长,处于一个低血糖状态而提前诱发生长激素分泌。120min才出现峰值的较少,仅占8.3%,这部分患儿可能对各种药物刺激不敏感,但是否对生长激素治疗反应疗效欠佳,还有待进一步研究证实。     

The use of somatropin (recombinant growth hormone) in children of short stature

The availability of somatropin [recombinant human growth hormone (GH)] has revolutionized the treatment of short stature resulting from GH deficiency. It is also widely used as an adjunct in the treatment of other disorders which do not fit the definition of classic GH deficiency, such as intrauterine growth restriction, Turner syndrome, healthy children with short stature and skeletal dysplasias. The widespread use and ready availability of GH treatment has prompted questions about its tolerability, rationality, and the psychological effects of long-term treatment, leading to several trials. Early treatment of GH deficiency will allow the child to reach his or her genetic potential, although there continues to be marked variability in the criteria used to diagnose the deficiency, and in the treatment schedule, especially during puberty. Treatment has also been shown to have a beneficial effect on growth in children with chronic renal failure, with no adverse effects on the renal function. There are, however, no long-term data to determine final height, or randomized controlled studies to justify routine use of GH in conditions such as intrauterine growth restriction. It remains controversial in conditions such as Turner syndrome and achondroplasia, where the response to treatment is only moderate. Healthy children with short stature have not been shown to have a psychological disadvantage, again proving difficult to justify prolonged GH treatment for idiopathic short stature. Meticulous monitoring, long-term follow-up to adult or near-adult final height, and well-defined endpoints of treatment need to be better clarified. The metabolic effects of treatment on the patient's lipid profile, bone mineral density, and muscle mass need careful documentation, especially with the high doses used in an already susceptible population such as low birthweight children and those with Turner syndrome. Lastly, the psychosocial impact of GH treatment, financial implications, and cost efficacy of treatment in an ever-increasing list of indications should be taken into consideration for rationalizing its use in future.     

宫内发育迟缓大鼠软骨生长板生长轴变化的研究

目的研究宫内发育迟缓（IUGR）大鼠长骨生长、骨骺软骨生长板形态学和IGF-1表达的变化,探讨其生长轴受损的机制。方法采用母鼠妊娠期饥饿法建立IUGR动物模型。根据新生鼠及其生后第4周时体重和身长分为有生长追赶IUGR组、无生长追赶IUGR组和正常对照组;测量4周龄时各组幼鼠下肢长骨长度并比较胫骨生长板形态学,免疫组化法测定生长板IGF-1表达量。结果两组IUGR鼠生长板各指标（胫骨长度、股骨长度、胫骨生长板宽度、胫骨增殖期每柱细胞数）和生长板增殖期软骨细胞IGF-1表达显著小于正常对照组（均P〈0.05）,无生长追赶IUGR组更甚。结论IUGR鼠存在生长板局部GH/IGF-1轴受损伴骨生长板纵向生长障碍,无生长追赶者受损更甚,是其导致矮小症的主要机制。     

Aspects of the treatment of Turner syndrome

Several issues have to be considered when taking care of girls and women with Turner syndrome. During childhood, short stature is the primary concern and treatment with growth hormone (GH) is now widely used, often in conjunction with the androgen, oxandrolone. Recent studies indicate that doses used previously in the treatment of short stature have been too small. Induction of puberty should be performed at an appropriate age with reference to the peers of the patient. In adulthood, female sex hormone substitution should be offered to possibly prevent the increased morbidity seen in Turner syndrome, which consists of increased risk of fractures and osteoporosis, a clustering of diseases like ischaemic heart disease, hypertension, stroke and Type 2 diabetes, the latter entities being involved in the insulin resistance syndrome. Furthermore, hypothyreosis are often seen and the risk of Type 1 diabetes may also be increased. Congenital malformations of the heart are frequently seen in Turner syndrome, possibly increasing the risk of dissecting aorta aneurism. Liver enzymes are often elevated in Turner syndrome and there may be an increased risk of cirrhosis of the liver. Mortality does seem to be increased in Turner syndrome and women with the ‘pure’ 45,X karyotype do seem to be most severely affected. In the clinical practice of Turner syndrome, a careful monitoring of glucose and bone metabolism, weight, thyroid function and blood pressure should be performed. A cardiovascular risk profile should be determined and the patient informed concerning risks and benefits from sex hormone replacement therapy. Based on the available literature, sex hormone replacement therapy is highly recommended, although at present there are no longitudinal data documenting the long-term positive effect of sex steroid substitution. However, hypogonadism is expected to explain at least part of the decreased lifespan found in Turner syndrome. Since general physicians encounter Turner patients infrequently, it is recommended that the care and treatment of Turner syndrome is centralised.     

Aspects of the treatment of Turner syndrome

Several issues have to be considered when taking care of girls and women with Turner syndrome. During childhood, short stature is the primary concern and treatment with growth hormone (GH) is now widely used, often in conjunction with the androgen, oxandrolone. Recent studies indicate that doses used previously in the treatment of short stature have been too small. Induction of puberty should be performed at an appropriate age with reference to the peers of the patient. In adulthood, female sex hormone substitution should be offered to possibly prevent the increased morbidity seen in Turner syndrome, which consists of increased risk of fractures and osteoporosis, a clustering of diseases like ischaemic heart disease, hypertension, stroke and Type 2 diabetes, the latter entities being involved in the insulin resistance syndrome. Furthermore, hypothyreosis are often seen and the risk of Type 1 diabetes may also be increased. Congenital malformations of the heart are frequently seen in Turner syndrome, possibly increasing the risk of dissecting aorta aneurism. Liver enzymes are often elevated in Turner syndrome and there may be an increased risk of cirrhosis of the liver. Mortality does seem to be increased in Turner syndrome and women with the 'pure' 45,X karyotype do seem to be most severely affected. In the clinical practice of Turner syndrome, a careful monitoring of glucose and bone metabolism, weight, thyroid function and blood pressure should be performed. A cardiovascular risk profile should be determined and the patient informed concerning risks and benefits from sex hormone replacement therapy. Based on the available literature, sex hormone replacement therapy is highly recommended, although at present there are no longitudinal data documenting the long-term positive effect of sex steroid substitution. However, hypogonadism is expected to explain at least part of the decreased lifespan found in Turner syndrome. Since general physicians encounter Turner patients infrequently, it is recommended that the care and treatment of Turner syndrome is centralised.     

基因重组人生长激素治疗青春期前特发性矮小儿童临床研究

目的观察基因重组人生长激素（rhGH）治疗青春期前特发性矮小（ISS）的疗效。方法29例青春期前特发性矮小患儿分为两组,治疗组15例,男9例,女6例,均予rhGH（0．13～0．15）U／（kg·d）,临睡前皮下注射,疗程6个月至12个月;对照组14例,男7例,女7例,未给予rhGH治疗。结果治疗组治疗后生长速率（GV）为（9．27±1．6）cm／年,对照组为（4．83±2．1）cm／年,两组比较差异有非常显著意义（P〈0．01）,治疗后治疗组骨龄身高标准差积分（HtSDSBA）为（0．82±0．51）,对照组为（1．51±0．89）,两组比较差异有显著性（P〈0．05）,两组骨龄增长／年龄增长（△BA／ACA）比较差异无显著性（p〉0．05）。结论使用rhGH治疗ISS儿童,可使生长加速,在短期内有明显的促生长作用,对骨龄的影响不大,且不会引起青春发育提前。     

Growth hormone treatment in children: review of safety and efficacy

Since the advent of growth hormone (GH), the pediatric applications of GH therapy have expanded. Children with a wide variety of growth disorders have received GH treatment. The therapeutic effects and safety profile of GH in a number of pediatric conditions are reviewed, including GH deficiency (GHD), Turner syndrome, chronic renal failure, children born small for gestational age, Prader-Willi syndrome, juvenile chronic arthritis, and cystic fibrosis. GH therapy has been clearly shown to improve height velocity during childhood in a variety of pediatric conditions in which growth is compromised. There is now data that confirms GH treatment also improves final height in a number of diagnostic subgroups. Early initiation and individualization of GH treatment has the potential to normalize childhood growth in children with idiopathic GHD and enable them to achieve their genetic target height in a cost-effective manner. In children in whom GHD is not the main factor compromising growth, supra-physiological doses of GH have been shown to increase height velocity during childhood and final height. The development of predictive models for these conditions may allow further improvements in height outcome while maintaining an acceptable safety profile. Survivors of childhood malignancy, particularly those who have had craniospinal irradiation, represent a particularly challenging group. They appear to be less responsive to GH than children with idiopathic GHD and have a tendency to enter puberty at an earlier age. Both of these factors have a negative impact on their final height. Strategies that combine GH treatment with suppression of puberty using a gonadotropin releasing hormone analog may result in improved height outcomes. When children with GHD are treated with standard doses of GH there is a strong safety record. Adverse events during GH therapy are uncommon and often not drug related. Continued surveillance into adult life is crucial however, particularly in children receiving supra-physiological doses of GH or whose underlying condition increases their risk of adverse effects.     

生长激素受体外显子3缺失多态性在矮小儿童与正常儿童中的分布比较

目的:研究生长激素受体(GHR)基因外显子3缺失多态性在矮小症儿童与正常儿童的人群分布,并比较二者有无差异。方法:选择矮小症儿童143例为试验组,包括生长激素缺乏症(GHD)58例,小于胎龄儿(SGA)40例,特发性矮小症(ISS)45例。采用多重聚合酶链反应(PCR)的方法对GHR外显子3缺失进行多态性分析,与同期健康儿童170例(对照组)对比。结果:试验组GHR外显子3缺失多态性fl/fl、fl/d3、d3/d33种基因型分别为71、58、14例,对照组为110、49、11例,前者fl/d3和d3/d3的比例明显高于后者,2组多态性分布差异有统计学意义(P<0.05)。试验组d3等位基因频率0.301(86/286)高于对照组的0.209(71/340),差异有统计学意义(P<0.05)。不同地区正常人群中3种基因型及等位基因频率分布对比差异有统计学意义(P<0.05),而SGA和GHD患者间分布差异均无统计学意义(均P>0.05)。结论:GHR外显子3多态性在矮小症儿童与正常儿童中的分布存在差异,推测可能与矮小症发病有一定关系。     

重组人生长激素治疗特发性矮小症35例临床疗效分析

目的：探讨重组人生长激素治疗特发性矮小症的临床疗效及安全性。方法：选取2010年6月至2012年12月我院儿科诊治的特发性矮小症患儿70例,采用随机数表法将患儿分成两组各35例,对照组给予营养支持,并补充定量钙及赖氨基醇维生素B。治疗组在对照组治疗的基础上于每晚临睡前1h给予皮下注射重组人生长激素0．15U／（kg·d）,连续治疗6～18个月,比较两组患儿治疗前后的生长速度（GV）、骨龄（BA）、骨龄对应的身高标准差分值（HtSDSBA）、年龄对应的身高标准差分值（HtSDSCA）、骨龄／实际年龄（BA／CA）、预测成年身高（PAH）变化,并观察不良反应。结果：两组惠儿治疗前各项指标比较差异无统计学意义（P〉0．05）,治疗后6个月、12个月、18个月治疗组GV、HtSDSBA、HtSDSCA、PAH与对照组比较差异有统计学意义（P〈0．05）;两组治疗后6个月、12个月、18个月BA、BA／CA比较差异无统计学意义（P〉0．05）;治疗组在治疗期间出现注射部位皮肤红肿1例,为一过性,停药后自行消失,肝肾功能、血常规、尿常规、血糖、甲状腺功能未见异常。结论：重组人生长激素治疗特发性矮小症安全、有效,可有效增加患儿生长速度,对骨龄的增长不明显,值得在临床上推广使用。     

芳香化酶抑制剂在儿科领域应用研究进展

芳香化酶抑制剂在儿科内分泌疾病治疗中应用较为广泛。其中,作为第三代芳香化酶抑制剂的来曲唑(letrozole)及阿那曲唑(anastrozole)与芳香化酶可逆结合后,可抑制雄激素向雌激素转化,降低雌激素水平。其可辅助治疗特发性身材矮小、青春期生长激素缺乏症、体质性青春发育延迟的矮小患儿,延迟其骨骺闭合、促进长高,提高其生活质量。与生长激素联合应用促长高效果更明显,又可用于性发育异常的治疗等。但芳香化酶抑制剂对患儿椎体畸形、认知发展及成年后睾丸体积无明显影响。本文就芳香化酶抑制剂在儿科领域应用研究进展作一综述。