中国城镇儿童不同Tanner分期身高体重现况调查

目的了解我国城镇3～18岁儿童不同Tanner分期身高、体重的情况, 为建立各青春发育期身高、体重的标准化参照值提供依据。方法于2017年1月至2019年12月应用分层随机整群抽样的方法, 对中国12个省、自治区、直辖市218 185名健康儿童体格发育情况进行横断面调查。调查指标包括体重、身高、腰围、臀围和第二性征。采用基于GAMLSS软件构建各年龄组男、女童的身高、体重百分位数参照值及生长曲线, 采用Wilcoxon秩和检验比较各Tanner分期儿童与同年龄同性别不分发育分期组所有儿童的身高、体重第50百分位值。结果绘制出3～18岁儿童男、女各自年龄的身高、体重第3、50、97百分位曲线。绘制出儿童男、女各青春发育期年龄的身高、体重第3、50、97百分位曲线。9岁及以上Tanner 1期男童和7岁及以上Tanner 1期女童身高及体重低于同年龄同性别所有儿童(均P<0.01), 男女童身高差值范围分别为-4.0～-0.6、-4.4～-0.5 cm, 体重差值范围分别为-4.8～-0.4、-4.0～-0.3 kg。Tanner 2期与3期儿童年龄的身高及年龄的体重呈先高后低趋势,...     

维生素D依赖性佝偻病IA型两例报告

回顾性分析2017年7月至2019年9月在深圳市儿童医院诊断为维生素D依赖性佝偻病IA型(vitamin D-dependent rickets IA,VDDR-IA)2例患儿的症状、体征、实验室检查(包括1α-羟化酶编码基因CYP27B1检测结果)、影像学资料及随访情况,并进行文献复习.两例患儿女性、男性各1例,分别于11月龄和18月龄起病,临床表现为佝偻病,25羟维生素D(25-hydroxyvitamin D,25OHD)正常或轻度升高,常规维生素D治疗无效,其中1例股骨骨折迁延2年余不愈,经CYP27B1基因测序分析发现两例患者1例为c.1319_1325dupCCCACCC纯合突变、1例为[c.1319_1325dupCCCACCC]+[c.1358G>A]复合杂合突变,确诊为VDDR-IA,予口服骨化三醇及钙剂治疗,分别随诊35个月、22个月,患儿症状、体征好转,骨折愈合,呈现身高追赶.当佝偻病发病年龄不典型,常规维生素D治疗无效,25OHD不低时,需警惕VDDR-IA,并行CYP27B1基因检测,注意c.1319_1325dupCCCACCC突变.     

小于胎龄儿青春前期线性生长方式与血清胰岛素水平关系的研究

Objective To evaluate the association between two different linear growth patterns with the levels of serum insulin in children bem small for gestational age(SGA).Methods Serum fasting glucose,fasting insulin,and insulin-like growth factor-I(IGF-I)concentrations were determined in 30 catch-up growth(CUG)children bern SGA [CUG-SGA,16 females,14males,(6.62±0.66)year],37 non-catch-up growth(NCUG)children born SGA[NCUG-SGA,15 females,22 males,(5.97±0.56)year],and42 appropriate for gestational age(AGA)children with normal height[AGA,16females,26males,(7.05±0.39)year].Results (1) Basal fasting insulin and homeostasis model assessment for insulin resistance(HOMA-IR)were significantly higher in CUG-SGA group than in NCUG-SGA and AGA group(P<0.01 or P<0.05).But there was no difference in fasting insulin between NCUG-SGA group and AGA group.IGF-I levels in CUG-SGA were significantly higher than in NCUG-SGA group[(212.61±17.81 vs 137.40±14.66)ng/ml,P=0.001],but showed no difference from AGA group(P=0.095).(2)In the SGA group,HOMA-IR showed positive correlation with age,△height SDS,and current body mass index.Fasting insulin showed positive correlation with △height SDS(r=0.500,P=0.002)in≤6 year group as well as with △weight SDS(r=0.496,P=0.030)in>6 year group.Conclusions Insulin as a growth factor may participate in postnatal catch-up growth accompanied with increased insulin resistance in SGA children.     

小于胎龄儿青春前期线性生长方式与血清胰岛素水平关系的研究

目的 探讨小于胎龄儿(small for gestational age,SGA)出生后生长追赶状态与血清胰岛素水平的关系.方法 青春前期30例有生长追赶SGA(catch-up growth SGA,CUG-SGA组)、37例无生长追赶SGA(NCUG-SGA组)和42例适于胎龄儿(appropriate for gestational age,AGA组),测定空腹血糖、空腹胰岛素(FINS)和血清胰岛素样生长因子I(IGF-I).结果 (1)与NCUG-SGA和AGA组比较,CUG-SGA组FINS和稳态模型评估的胰岛素抵抗指数(HOMA-IR)显著为高(P<0.01或P<0.05),而NCUG-SGA组与AGA组则无显著性差异(P>0.05).CUG-SGA组血清IGF-I水平较NCUG-SGA组显著为高[(212.61±17.81对137.40±14.66)ng/ml,P=0.001],但与AGA组无显著性差异(P=0.095).(2)SGA组HOMA-IR与年龄、身高标准差分值增值(AHtSDS)和体重指数分别正相关;≤6岁SGA组FINS与△HtSDS呈正相关,>6岁组FINS与体重标准差分值增值呈正相关.结论 生后早期胰岛素可能以生长因子角色参与了SGA儿的生长追赶;胰岛素抵抗程度与生长追赶程度相随.

Abstract：

Objective To evaluate the association between two different linear growth patterns with the levels of serum insulin in children bem small for gestational age(SGA).Methods Serum fasting glucose,fasting insulin,and insulin-like growth factor-I(IGF-I)concentrations were determined in 30 catch-up growth(CUG)children bern SGA [CUG-SGA,16 females,14males,(6.62±0.66)year],37 non-catch-up growth(NCUG)children born SGA[NCUG-SGA,15 females,22 males,(5.97±0.56)year],and42 appropriate for gestational age(AGA)children with normal height[AGA,16females,26males,(7.05±0.39)year].Results (1) Basal fasting insulin and homeostasis model assessment for insulin resistance(HOMA-IR)were significantly higher in CUG-SGA group than in NCUG-SGA and AGA group(P<0.01 or P<0.05).But there was no difference in fasting insulin between NCUG-SGA group and AGA group.IGF-I levels in CUG-SGA were significantly higher than in NCUG-SGA group[(212.61±17.81 vs 137.40±14.66)ng/ml,P=0.001],but showed no difference from AGA group(P=0.095).(2)In the SGA group,HOMA-IR showed positive correlation with age,△height SDS,and current body mass index.Fasting insulin showed positive correlation with △height SDS(r=0.500,P=0.002)in≤6 year group as well as with △weight SDS(r=0.496,P=0.030)in>6 year group.Conclusions Insulin as a growth factor may participate in postnatal catch-up growth accompanied with increased insulin resistance in SGA children.     

对特发性身材矮小儿童诊断和治疗的共识声明生长激素研究学会、Lawson wilkins儿科内分泌学会及欧洲儿科内分泌学会专题研讨会纪要

身材矮小是小儿内分泌科和其他儿科医生最常遇到的主诉之一,其中有相当数量病因不明,称为特发性身材矮小(ISS).     

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目的探讨单纯性肥胖儿童的生长与其血清胰岛素(Ins)、胰岛素样生长因子-1(IGF-1)、胰岛素样生长因子结合蛋白-3(IGFBP-3)浓度的关系。方法2004-03中山大学附属二院对31例单纯性肥胖儿童及48例同龄正常儿童的生长参数及空腹Ins、IGF-1、IGFBP-3浓度进行测定,并进行比较及相关性分析。结果肥胖组血清Ins、IGFBP-3浓度显著高于对照组(P<0·05,P<0·01),而两组间IGF-1差异则无显著性意义,血清Ins浓度与BMI、IGFBP-3呈正相关,肥胖儿童身高SDS与1NS、IGF-1正相关。结论肥胖儿童存在有非生长激素(GH)依赖性生长的代偿机制。其中高胰岛素血症可能参与了这一过程,它既可以通过增加IGFBP-3的合成来间接提高IGF-1的生物活性,又可以直接发挥促生长作用。     

小于胎龄儿大鼠胰岛素抵抗与ghrelin水平的关系

Objective To observe the change of insulin sensitivity index (ISI) and ghrelin level, to examine their correlation and to explore the role and significance of ghrelin in insulin resistance (IR) in small for gestational age (SGA) rats. Methods The SGA models were established by starvation method in pregnant SD rats. Experimental rats were grouped by body length and/or body weight 4 weeks after birth.Experiment grouping: ( 1 )SGA group with growth catch-up (Group S 1, n=26 ); (2)SGA group without growth catch-up (Group S2, n=31 ); (3)Normal control group was composed by male rats whose mothers ate and drank freely during pregnancy (Group C, n=27). Body weight and serum ghrelin level was checked 4 weeks after birth. Body weight, serum ghrelin, fasting blood glucose and fasting insulin were tested when the rats were 12 weeks old, and then ISI was calculated. Correlation of all the indexes was analyzed. Results The ISI of 12-week-old SGA rats was significantly decreased as compared to normal control (Group S1:2.00± 0.58, Group S2:2.23±0.58 vs Group C: 3.17±0.54, both P＜0.05). Serum ghrelin level of SGA rats was decreased compared with Group C, but the disparity was not statistically significant [Group S1: (1.357± 0.548) μg/L, Group S2: (1.428±0.714) μg/L vs Group C: (1.843±0.459) μg/L,both P＞0.05 ]. Ghrelin level in 12-week-old rats presented negative correlation with fasting insulin level in blood(r=-0.836,P＜0.01 ), and positive correlation with ISI (r=0.810, P＜0.01). Conclusion The decrease of serum ghrelin level is correlated with IR in adult SGA rats. Low serum level of ghrelin may be the result of IR.     

额外der(22)t(11;22)综合征2例

病例 1.先证者 ,男 ,第 1胎第 1产 ,胎龄 36 + 5周 ,1998年 1月 12日顺产娩出 ,出生体重 2 2 6kg ,重度窒息。体检发现双侧颈蹼 ,耳垂低 ,高腭弓 ,气管右移 ,左肺未闻及呼吸音 ,在右胸前区闻及心音 ,四肢肌张力低 ,阴茎短 ,家人放弃 ,生后 10 5min死亡。尸检结果 :头皮腱膜下广泛出血 ,外侧裂及颅底蛛网膜下腔灶性出血 ,小脑天幕多灶性出血灶 ,左膈肌裂孔伴小肠疝入左胸腔 ,支气管及心脏向右侧胸腔移位 ,左肺肺不张 ,心房间隔卵圆孔开放 ,左右睾丸隐睾 ,阴茎发育差。染色体检查为 4 7,XY ,+der(2 2 )t(11;2 2 ) (q2 3;q11)。确诊为额外der…     

先天性低促性腺激素性性腺功能减退男童的临床及遗传学特征分析

目的分析先天性低促性腺激素性性腺功能减退(CHH)男童的临床及遗传学特征。方法横断面研究, 回顾性分析。收集2019年12月至2023年2月在深圳市儿童医院内分泌专科就诊, 最后基因确诊为CHH的27例男性患儿的临床资料、实验室数据及基因结果。分析其临床表现、激素水平及其基因变异情况。非正态分布采用中位数表示, 非正态分布数据两组间比较采用秩和检验。结果基因确诊为CHH男性患儿共27例, 初诊年龄为0.3～16.6岁, 患儿均表现为小阴茎(占100%), 合并隐睾16例(占59.3%), 合并小睾丸9例(占33.3%), 单纯性小阴茎7例(占25.9)%, 无单纯性隐睾, 3例患儿合并心脏异常;基础血清黄体生成素(LH)水平中位数为0.09 IU/L, 92.5%(25/27)的患儿基础LH<1.00 IU/L, 促性腺激素释放激素(GnRH)兴奋后LH峰值的中位数为1.42 IU/L, 96.2%(26/27)的患儿LH峰值<4.00 IU/L;血清抑制素B的中位数为41.15 μg/L;血清抗苗勒管激素(AMH)的中位数为12.62 mg/L;合并隐睾的患儿血清AMH水...     

CNP在GH促进GnRHa治疗中大骨龄、青春中后期CPP/EFP女孩线性生长机制中的作用

 目的:探讨生长激素（growth hormone,GH）改善促性腺激素释放激素类似物（gonadotropin-releasing hormone analogue,GnRHa）治疗中大骨龄、青春中后期中枢性性早熟（central precocious puberty,CPP）或快速进展型早发育（early and fast puberty,EFP）女孩线性生长的近期疗效,以及C型利钠肽（C-type natriuretic peptide,CNP）在GH促线性生长机制中的作用。方法:22例骨龄≥11.5岁、预测成年身高（predicted adult height,PAH）严重受损、青春中后期的特发性CPP或EFP女孩分为2组各11例：（1）单用GnRHa组:仅用GnRHa（每4周缓释型曲普瑞林60～80 μg/kg,im）治疗;（2）联用GH组:联用GnRHa和GH（每周1 U/kg,分6~7次睡前sc）治疗。每3个月测量身高和体重,检查性征;治疗开始和治疗6个月末行骨龄检查,并检测血清CNP氨基端前体（amino-terminal pro-C-type natriuretic peptide,NTproCNP）、胰岛素样生长因子1（insulin-like growth factor 1,IGF-1）及1型前胶原氨基端伸展肽（procollagen type 1 amino-terminal propeptide,P1NP）的浓度。比较治疗前及治疗后6个月的身高增长速度（height velocity,HV)、按骨龄身高的标准差分值（height SD score for bone age,HtSDSBA）、PAH及上述血清指标的变化。结果:（1）联用GH组治疗6个月的HV、HtSDSBA增值（ΔHtSDSBA）和PAH增值（ΔPAH）均显著高于单用GnRHa组(P<0.01)。（2）联用GH组治疗6个月末与治疗开始时比较,血清NTproCNP、P1NP浓度和IGF-1浓度均无显著性差异。（3）单用GnRHa组治疗6个月末的血清NTproCNP和P1NP浓度则均较治疗开始时显著下降（P<0.05),IGF-1浓度则无显著差异。结论: 对于大骨龄、青春中后期的特发性CPP或EFP女孩,GnRHa联用GH能促进线性生长,有效改善预测成年身高。GH的促生长作用不依赖于血清IGF-1水平的变化,而可能部分与CNP介导的长骨生长加速有关。