矮小儿童下丘脑-垂体及其胰岛素样生长因子轴功能检查的意义

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。     

胼胝体发育异常临床特征及磁共振的诊断价值

目的探讨胼胝体发育异常(DCC)的临床特征和MRI对其的诊断价值。方法分析DCC患儿16例的临床资料及MRI表现。结果癫发作8例(50%),智力低下5例(31.25%),运动障碍7例(43.75%)。头颅MRI均有改变。MRI矢状位能直观、清晰地显示出胼胝体全貌及其异常程度。结论DCC临床表现复杂多样。MRI是诊断DCC最理想的方法。     

特发性生长激素缺乏症少儿垂体磁共振成像研究

摘要：目的　研究特发性生长激素缺乏症（IGHD）少儿垂体磁共振成像（MRI）表现。方法　选取北京协和医院内分泌科2005年1月至2010年1月确诊的100例IGHD患儿, 均行MRI平扫及增强检查, 与152例同年龄同性别健康少儿（正常组）匹配分析比较。结果　IGHD少儿鞍区MRI主要表现为垂体发育不良、垂体后叶异位或缺如、垂体柄变细中断甚至消失。IGHD组与正常组垂体上缘形态及信号特点差异具有统计学意义。IGHD组垂体高度和垂体柄宽度明显低于正常组（P < 0.01）。结论　IGHD少儿垂体形态有特征性改变, 根据临床与实验室检查再结合垂体MRI表现对诊断IGHD具有明显帮助。     

垂体柄阻断综合征4例

目的 通过对垂体柄阻断综合征(PSIS)患者临床特点进行分析,加强对本类疾病的认识.方法 总结本院2010年7月-2011年3月收治的4例PSIS患者的临床表现、实验室检查和影像学资料,采用回顾性分析方法,对其特点进行分析.结果 PSIS患儿4例.其中男3例,女1例.4例均以生长发育迟缓为主诉,1例还有步态不稳、反复抽搐.4例患儿身高78.0～130.0 cm,均低于同年龄、同性别健康儿童平均身高的第3百分位以下.有腺垂体功能减退的临床表现和实验室检查:生长激素激发试验峰值均低于5 000 ng·L-1;其中2例伴垂体性甲状腺功能减低和垂体性肾上腺皮质功能减退.神经垂体功能正常.垂体MRI增强扫描均表现为垂体柄未见显示,垂体小,后叶异位.1例并Chiari畸形I型.结论 PSIS的发病率低,以生长发育迟缓为主要临床表现,伴部分性或完全性腺垂体功能减退,但神经垂体功能正常.部分患儿合并其他先天发育畸形.MRI检查的特征性表现为垂体柄缺如,垂体小,神经垂体异位,应提高临床对PSIS的认识和诊治能力.     

内分泌系统疾病

900544 垂体性侏儒症16例临床报告/薛志新…∥临床儿科杂志。-1989,7(5)。-285～286 男13例,女3例。年龄6.5～16岁。病程2～14岁。8例治前身高增长率1.79cm/年,6例有围产期问题。14例特殊病容,骨龄较实际年龄落后2～8岁。16例头颅蝶鞍区X线摄片和/或CT检查无异常。4例为单纯性GHD(单纯生长激素缺乏症),1例GHD TSHD(合并继发性甲状腺机能减退),8例GHD ACTHD(合并继发性肾上腺皮质机能减退症),3例PHP(全垂体前叶机能减退症)。16例均做胰岛素刺激试验、精氨酸刺激试验及左旋多巴刺激试     

不同影像学检查对儿童动脉缺血性脑卒中的诊断价值

目的 探讨头颅CT、MRI及磁共振血管造影术(MRA)对儿童动脉缺血性脑卒中(AIS)的诊断价值.方法 选取AIS患儿157例.男92例,女65例;年龄4个月～16岁.病程3h～21d.患儿均有肢体瘫痪或面瘫.回顾性分析157例AIS患儿的病历资料,对其头颅CT、MRI、MRA、MRI加MRA结果进行比较,分别计算头颅CT、MRI、MRA、MPI加MRA的受检总人数和AIS阳性检出率;CT和MRI对不同梗死部位显示的例数和阳性率,MRA对不同大血管病变显示的例数和阳性率.采用SPSS 11.5软件进行统计学分析.结果 头颅CT、MRI、MRA、MRI加MRA的AIS阳性检出率分别为84.3%、93.5%、70.7%和97.3%.CT与MRI及MRA比较均有显著性差异(Pa＜0.05);MRI与MRA、CT与MRI加MRA,MRA与MRI加MRA比较均有非常显著性差异(Pa＜0.01);MRI与MRI加MRA比较无显著性差异(P＞0.05).53.2%患儿的MRI显示多部位梗死灶,CT仅为20.6%,二者比较差异具有非常显著性差异(P＜0.01).116例接受MRA检查,82例(70.7%)示脑血管狭窄或闭塞性改变,余34例行MRI及其他检查证实有血管闭塞.结论 MRI阳性检出率较CT高,在多部位梗死灶显示方面更具有优势.MRA阳性检出率较CT低.同时行MRA与MRI检查较单独行MRA的阳性检出率高,但并不比单独行MRI的阳性检出率高.     

病毒性脑炎患儿的磁共振成像特点及其诊断价值

目的 探讨儿童病毒性脑炎的MRI特点及其诊断价值.方法 2002年5月-2007年10月确诊病毒性脑炎患儿42例.男27例,女15例;年龄1～14(6.32±3.89)岁.影像学检查时间为病程第1～21天.均行头颅CT及MRI平扫.统计MRI检查中累及不同部位的病例数,分析病灶的分布特点;比较二种影像学方法检出病灶的大小、数目,探讨儿童病毒性脑炎MRI与CT检查敏感性的差异.采用SPSS 11.0软件进行统计学分析,X2检验.结果 MRI检查42例均有阳性发现,累及大脑半球11例、基底核22例、丘脑26例、脑干23例、小脑3例,基底核、丘脑、脑干、小脑部位与大脑半球阳性检出率比较有显著差异(X2=4.141,10.868,7.115,5.486 P,<0.05).MRI共检出42例(38例多发病灶,4例单发病灶)169个病灶(直径0.3～11.0cm),CT检出17例45个病灶(直径0.8～11.0cm),MRI与CT检出病灶比较有显著性差异(X2=19.582 P<0.01).直径≤1.0cm的小病灶,MRI检出97个(57.40%),CT检出9个(20%).MRI T1WI共检出169个病灶中77个(45.56%),T2WI均清晰显示;直径≤1.0cm的小病灶,T1WI检出22个(22.68%),T2WI检出97个.结论 儿童病毒性脑炎病灶小且多发,易累及基底核区、丘脑及脑干,MRI诊断敏感性明显优于CT,且MRI中T2WI对诊断更有意义.     

重组人生长激素治疗不同垂体发育状况生长激素缺乏症患儿疗效的前瞻性研究北大核心CSCD

目的探讨重组人生长激素(recombinant human growth hormone,rhGH)对不同垂体发育状况生长激素缺乏症(growth hormone deficiency,GHD)患儿的治疗效果。方法前瞻性选取2020年6月—2021年12月许昌市妇幼保健院收治的90例GHD患儿为研究对象,根据垂体正中矢状高径将患儿分为垂体发育不良组(45例)、垂体正常组(31例)、垂体发育增大组(14例)。分析比较各组身高、生长速率、身高标准差分值、血清胰岛素样生长因子结合蛋白-3、胰岛素样生长因子-1,以及治疗前后上述指标变化的差值(差值用△表示)。结果治疗后3组身高、生长速率、身高标准差分值及血清胰岛素样生长因子结合蛋白-3、胰岛素样生长因子-1水平均高于治疗前(P<0.05);垂体发育不良组、垂体发育增大组△身高、△生长速率、△身高标准差分值、△胰岛素样生长因子-1、△胰岛素样生长因子结合蛋白-3均大于垂体正常组(P<0.05);3组不良反应发生率比较差异无统计学意义(P>0.05)。结论rhGH治疗不同垂体发育的GHD患儿均有促进骨生长、增加身高的作用,对垂体发育不良及增生患儿效果更明显,且安全性可靠。     

结节性硬化症患儿的临床、视频脑电图与影像学特征

目的 分析结节性硬化症(TSC)患儿的临床、视频脑电图(VEEG)和影像学特征.方法 对2000年6月-2010年6月在新疆维吾尔自治区人民医院儿科诊断为TSC患儿的临床资料,包括性别、年龄、民族构成、癫发作形式、皮肤损害情况和眼底情况等,以及头颅CT/MRI资料和VEEG.结果 41例TSC患儿中癫发作36例,癫的发生率为88.71%(36/41例),局限性发作为癫主要发作形式.VEEG异常者占77.78%(91/117例次),同一例患儿可见多种异常.TSC患儿头颅CT检查均有异常,均可见侧脑室外侧壁室管膜下结节状高密度影;23例TSC患儿头颅MRI异常,同一例患儿病变可以累及多个脑叶,并且病变范围较头颅CT更为广泛,头颅CT/MRI异常部位与VEEG的异常部位不完全相符.患儿眼底均未发现异常.结论 TSC患儿诊断主要依靠皮肤损害和头颅影像学检查,头颅CT/MRI检查对该病有诊断意义,但与VEEG的异常部位不完全相符,从经济学角度上认为行头颅CT检查更有价值.癫发作主要类型为局限性发作.     

垂体磁共振诊断儿童Rathke囊肿22例

目的 分析经垂体MR诊断的儿童Rathke囊肿(RCCs)的临床表现和MR特征.方法 选择青岛大学医学院附属医院2002年1月至2012年2月经垂体MR诊断的22例RCCs患儿,年龄2～18岁,回顾性分析总结其临床表现及垂体MR特征.结果 RCCs患儿22例,临床表现为内分泌异常13例(59.1％)、头痛5例(22.7％)、视力障碍1例(4.5％)及2种以上症状3例(13.6％)(其中矮身材并外生殖器发育障碍1例;1型糖尿病并电解质紊乱1例;头痛伴视力障碍1例).其中内分泌异常表现为矮身材5例(22.7％)、性早熟4例(18.2％)及尿崩症4例(18.2％).垂体MRT1加权像上信号多样,T2加权像多表现为高信号;T1加权像上高信号与垂体激素缺乏相关;增强扫描多未见明显强化.结论 儿童RCCs最主要的临床表现为内分泌异常.垂体MR表现具有一定特征性,垂体MR诊断与病理诊断符合率高,对术前诊断有重要价值.     

A review of growth hormone deficiency

Growth hormone deficiency (GHD) is a rare but important cause of short stature in children. It is treatable. However, diagnosis is challenging and often requires referral to a specialist paediatric endocrinologist to facilitate testing and the interpretation of results. Careful history and examination with meticulous auxology data are critical components of the initial evaluation in clinic. Thereafter, further investigations are required to exclude other causes of short stature, and to establish the diagnosis. It is a highly variable condition and to an extent the clinical features depend upon the severity of GHD itself. GH stimulation tests may be indicated in the short child who is growing slowly and who has low growth factor concentrations. There is, however, no consensus with respect to a diagnostic gold standard test for GHD, and this is usually based upon a combination of clinical, biochemical, and neuroradiological data, although molecular diagnosis may aid in years to come. This short article gives an overview of the importance of GHD and offers advice on how to take a history, conduct and examination and begin investigation for a child with suspected GHD. It discusses the known benefits and potential risks of treatment and offers practical advice for the generalist.     

Elevation of serum creatine phosphokinase during growth hormone treatment in patients with multiple pituitary hormone deficiency

Serum creatine phosphokinase (s-CPK) increased to more than 500 U/l in 5 out of 21 patients with growth hormone (GH) deficiency during the 2 years of treatment with biosynthetic GH. In three of these five patients, s-CPK had elevated gradually after the start of GH treatment and remained high in one patient except in the period when GH injection was interrupted, and gradually decreased in the other two patients during treatment. These three patients had complete GH deficiency associated with multiple pituitary hormone deficiency due to pituitary stalk transection. One of the remaining two patients had Noonan syndrome and his s-CPK levels before therapy were relatively high. The fifth patient was a baseball athlete and the elevation of s-CPK seemed to be attributable to the strenous exercise.Conclusion s-CPK increases significantly in a certain group of patients with GH deficiency during GH replacement therapy. Measurement of s-CPK is to be included in the follow up laboratory tests at least in the 1st treatment year to evaluate the potential hazardous effects of GH on muscle.     

LINEAR GROWTH IN HYPOPITUITARY PATIENTS TREATED WITH hGH AFTER AGE FIFTEEN

Abstract. Pertzelan, A., Adler-Bier, M., Kauli, R., Josefsberg, Z., Grunebaum, M., Horodniceanu, Ch. and Laron, Z. (Institute of Pediatric and Adolescent Endocrinology and Pediatric Radiology Unit, Beilinson Medical Center, Petah Tikva, and Sackler School of Medicine, Tel Aviv University, Israel). Linear growth in hypopituitary patients treated with hGH after age 15. Paediatr Scand, Suppl. 277: 69, 1979. Two groups of hHG deficient adolescents (isolated growth hormone deficinecy: 11 patients and multiple pituitary hormone deficiency: 20 patients) receiving hGH therapy were analyzed for their linear growth response. It was found that even at a chronological age of 15 years or more, growth can be markedly enhanced, depending upon the bone age and pubertal stage in the IGHD patients and upon optimal balance between hGH and sex hormones in the MPHD patients.     

Combined pituitary deficiencies of growth hormone, thyroid stimulating hormone and prolactin due to Pit-1 gene mutation: a case-report

A child exhibited postnatal obstipation and icterus together with severe growth failure during the 1st year of life, a small facial skull and a prominent forehead. Endocrine work-up established the diagnosis of combined pituitary deficiencies of growth hormone, TSH and prolactin. Subsequently, the Pit-1 gene was analysed in the patient and both parents. A single point mutation was detected in exon 6 of the child: a C to G transversion on one allele, causing arginine in position 271 to be substituted by tryptophan (R271 W). This position is known as a “hot spot” for mutations. The inheritance is autosomal-dominant, as the mutated gene product interferes with DNA-binding of the wild-type protein. In contrast, other mutations in the PIT-1 gene are inherited in an autosomal-recessive mode. Conclusion Diagnosing Pit-1 gene mutations as a rare cause of combined pituitary deficiency is important both for genetic counselling as well as for predicting the future course in the patient (spontaneous puberty, no glucocorticoid substitution necessary during stress periods). Received: 13 January 1997 / Accepted: 10 May 1997     

空蝶鞍患儿的垂体激素改变及治疗剂量观察

目的探讨空蝶鞍（ES）患儿垂体激素的改变及激素替代治疗（HRT）的剂量。方法测定1999年9月～2006年3月以生长迟缓就诊的20例ES患儿（经下丘脑-垂体MRI确诊）垂体激素,并与年龄匹配的正常对照组进行比较;同时观察HRT的合适剂量。结果20例中18例有难产史,所有患儿均伴有多种垂体激素缺乏症（MPHD）：ES患儿FT4和F显著低于对照组,其中12例〉10岁的男性患儿FSH、LH、T均显著低于对照组（P〈0.001）,E2和PRL均显著高于对照组,6例禁水加压素试验和MRI检查证实为垂体性尿崩症。相应HRT剂量：重组人生长激素为（0.11±0.01）U/（kg·d）,左旋甲状腺素钠（1.6±0.7）μg/（kg·d）,氢化可的松（10.2±2.4）mg/m^2,弥凝（0.11±0.03）mg/m^2。中枢性甲减患儿甲状腺素用量小于先天性甲减患儿。结论ES患儿常伴MPHD,需全面激素替代治疗才能使其安全生长。有难产史或MPHD表现者应常规做下丘脑垂体MRI,以了解其形态结构改变,协助治疗及改善预后。     

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??Abstract??Objective??To study the changes of shape?? size and signal intensity of pituitary gland in idiopathic growth hormone deficiency??IGHD??in adolescent. Methods??Clinical data of pituitary MRI of 100 puberty with IGHD were chosen from the Endocrine Department of Peking Union Medical College Hospital from January 2005 to January 2010??Compared these results with the normal. Results??There were significant difference of the superior shape of the pituitary and the MRI signal between the study group and control group. The height of pituitary gland and the width of pituitary stalk in the study group were significantly smaller than the control group ??P < 0.01??. There were three major imaging features of the pituitary MRI in IGHD cases?? the pituitary hypoplasia?? the posterior lobe of pituitary dystopia or disappear and the pituitary stalk thinning or disappear. Conclusion??There is a remarkable change of the pituitary in IGHD cases.It is necessary to combine the MRI of the pituitary with the clinical and laboratory findings to diagnose IGHD.     

Growth hormone therapy for 3 years: The OZGROW experience

Objective : To examine the growth response over 3 years of growth hormone deficient (GHD) and non-GHD children who have received growth hormone (GH) in Australia.
Methodology : A retrospective study of a group of patients (1362 children) who commenced GH prior to 1 September 1990. Data were collected at 12 growth centres located in major cities throughout Australia. The data were transferred after informed consent to the national OZGROW database located at the Royal Alexandra Hospital for Children, Sydney, NSW. Of the 1362 children, 898 had received 3 years or more GH therapy and were eligible for this analysis. This cohort was then categorized by diagnosis. Growth response was assessed using height standard deviation score, estimated mature height, growth velocity (GV), GH dose and bone age (years).
Results : For children who completed 3 years therapy, the baseline characteristics among diagnostic groups were similar with mean height standard deviation score (SDS) less than – 3 SDS (except for the malignancy group) and mean GV ranging from 3.5 to 4.4 cm/year. The GV during the first year improved in all groups (7.7-9.4 cm/year) followed by an attenuated response during the second and third years of therapy. After 3 years GH therapy the GHD group with peak levels <10 mU/L demonstrated the greatest change in estimated mature height and height SDS. The GHD group with peak levels between £10 but <20 mU/L had a growth response similar to the non-GHD children for all outcome parameters. Change in bone age ranged from 3.1 to 3.8 years with no differences being noted between the diagnostic groups, nor consistently with pubertal status.
Conclusions : Australian GH guidelines have targeted very short children when compared to other series. This large cohort of non-GHD children has demonstrated short-term benefits of GH therapy; however, the long-term benefit remains unclear until these children reach final adult height.     

Incidence of Anterior Pituitary Deficiency after Radiotherapy at an Early Age: Study in Retinoblastoma

ABSTRACT. Thirty-one patients treated for retinoblastoma in the first few years (3 months to 3 years and 6 months) of life were studied 2 to 15 years later. Radiotherapy delivered 1300 to 6 500 rads to the hypothalamo-pituitary area. Growth deficiency was documented in 30 % of all cases. Other pituitary deficiencies were the exception. The critical dose for GH insufficiency is between 2000 and 3000 rads, as in older children or adults. Our study does not support the hypothesis that the hypothalamo-pituitary area is more sensitive to radiation at an early age. Furthermore, conservative therapy of retinoblastoma leads to double lateral irradiation and will increase the number of GH deficient children after retinoblastoma.