先天性肾上腺皮质增生症早期治疗回顾分析

目的探讨先天性肾上腺皮质增生症(CAH,21-羟化酶缺乏)早期治疗的疗效。方法回顾性分析1997年至2011年出生,在6月龄内诊断并开始治疗的69例CAH患儿病史资料,了解早期治疗对患儿生长发育的影响,探讨治疗随访的评估指标。结果 69例患儿于生后4~180 d开始接受治疗,平均中位年龄47 d;平均生长速率为(7.4±1.1)cm/年;末次随访中位年龄3.4岁(0.67~9.92岁),身高均位于正常儿童生长水平的第25~50百分位;76%患儿的骨龄接近实际年龄;预测男女患儿终身高分别为(168.9±8.5)cm和(155.4±8.0)cm,71%位于遗传靶身高范围内,优于以往报道的诊断和治疗年龄>1岁患儿的终身高[(151.0±7.0)cm];真性性早熟发生率为5.79%(4/69),低于以往报道≤3岁及>3岁治疗者性早熟发生率(分别为14%及50%);治疗期间电解质、促肾上腺皮质激素(ACTH)、睾酮水平控制正常比例占86%~93%,17-羟孕酮波动较大;促肾上腺皮质激素、17-羟孕酮、睾酮呈正相关。结论早期治疗能改善CAH患儿的生长,降低性早熟发生率,提高终身高。     

先天性肾上腺皮质增生症合并中枢性性早熟临床分析

目的分析先天性肾上腺皮质增生症(CAH)患儿合并中枢性性早熟的临床表现。方法通过回顾性分析和临床随访,在12例21羟化酶缺乏患儿中发现20例合并中枢性性早熟。根据治疗和非治疗情况分为A组(9例)和B组(11例),分析其发生的年龄、骨龄以及与激素替代治疗的关系。结果A组中发生中枢性性早熟的实际年龄平均为(5.6±2.1)岁,骨龄平均为(12.0±3.2)岁;B组中诊断中枢性性早熟平均年龄在(6.8±1.1)岁;骨龄平均值在(11.7±2.0)岁,两组在统计学上差异无显著性。B组应用氢化可的松治疗后平均2.3年出现中枢性性早熟。结论CAH患儿骨龄发育提前是发生性早熟的主要原因,早诊断和早治疗可改善预后。     

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目的分析男性儿童同性性早熟的病因及临床特点。方法回顾性分析1988年1月至2009年4月中山大学附属第一医院收治的明确病因诊断的78例男性同性性早熟病例的病因及临床特点。结果中枢性性早熟(CPP)55例(70.51%),按构成比前三位病因为特发性性早熟、下丘脑错构瘤、先天性肾上腺皮质增生症(CAH)继发,其中下丘脑错构瘤患儿就诊年龄小、GnRHa激发试验后LH浓度最高,CAH患儿骨龄提前最多、HtSDSba负值最大;外周性性早熟(PPP)23例(29.49%),分泌HCG生殖细胞瘤和CAH为主要病因,CAH患儿由PPP转变为CPP的比例较大(5/9),尤其是初治年龄较大者更易发生。分泌HCG的生殖细胞瘤血和(或)脑脊液的β-HCG水平均升高。结论男性儿童性早熟以器质性病变引起多见,在诊治过程中应积极寻找病因。     

女童性早熟38例

目的探讨女童真性性早熟和假性性早熟的早期鉴别及预防。方法对38例女童性早熟患儿详细询问病史,测身高、体质量,摄左腕正位X线片进行骨龄评价(Gmelich-Pyle法),B超检查,促性腺激素释放激素(LHRH)刺激试验:静脉注射戈那瑞林2.5μg.kg-1,分别于注射后0min、30min、60min静脉采血查血卵泡刺激素(FSH)、黄体生成素(LH)、雌二醇(E2)水平。结果38例中真性性早熟18例,其中17例为原发性;假性性早熟20例,均原因不明,但对各种儿童饮料、滋补保健品经常食用及各种肉类在饮食中比例较大者假性性早熟组明显高于真性性早熟组。LHRH刺激试验LH、FSH和E2的峰值升高均明显,其中以LH峰值升高最明显。2组比较,骨龄/身高年龄差异显著,骨龄/实际年龄无统计学差异。结论LH和骨龄/身高年龄是真假性早熟最重要的鉴别指标,性早熟应以早预防、早诊断、早治疗为主,同时应对其进行心理行为干预治疗。     

促性腺激素释放激素类似物治疗儿童真性性早熟10例报告

为观察促性腺激素释放激素类似物 (GnRH_A)治疗儿童性早熟的疗效 ,以GnRH_A每次100μg/kg,每28d应用1次 ,对10例真性性早熟患儿进行治疗。治疗3个月后所有患儿第二性征明显退缩 ;治疗6个月后所有患儿性激素水平下降 ,BA/CA下降 ,预测成年身高[按骨龄预测成年身高 (Bayley_pinneau法 )]由治疗前 (156.4±6.2)cm升至(159.4±7.4)cm(P<0.01)。治疗过程中无明显不良反应。GnRH_A能抑制下丘脑 -垂体 -性腺轴的活动 ,使性激素分泌减少 ,从而使真性性早熟患儿第二性征逐渐退缩 ,骨龄生长减慢 ,改善最终身高 ,而且GnRH_A临床使用安全。     

女童乳房早发育的临床鉴别

目的：探讨乳房早发育与真性和假性早熟的关系。方法采用回顾性研究的方法,对３６名乳房早发育患者的临床表现、盆腔Ｂ超、血激素、骨龄、身高等指标进行对照分析。结果真性性早熟１７例,假性性早熟１９例,两组临床表现无明显差异;真性性早熟组骨龄／身高年龄高于假性性性早熟组;９４．７４％的真性性早熟腹部Ｂ超检查卵巢有发育;两组大部分患者黄体生成素（ＬＨ）和卵泡刺激素（ＦＳＨ）正常,而促性腺激素释放激素（ＬＨ）和     

内分泌系统疾病

05 0 61 2　性早熟女童初潮后骨龄、身高增长随访观察 /顾再研…∥中国儿童保健杂志 .- 2 0 0 4 ,1 2( 2 ) .- 1 64～ 1 661 .初潮时平均年龄 ( 9.2 8± 0 .5 0 )岁 ,身高( 1 40 .5 0± 5 .69) cm,骨龄 ( 1 1 .85± 0 .38)岁。 2 .以初潮前半年生长速率≤ 7cm年和 >7cm/年分组观察初潮时骨龄值 ,前者为 ( 1 1 .62± 0 .39)岁 ,后者为( 1 2 .0 1± 0 .2 8)岁 ,2者差异有显著性 ( P<0 .0 5 )。3.不同骨龄组在后半年的生长速率也存在显著差异 ,骨龄大组 ,生长速率较小。 4.初潮时骨龄与 1 8个月的身高增长量呈负直线相关 ( r=0 .80 ,P<0 .0 5 …     

儿童性早熟86例临床特点回顾性分析

目的分析性早熟儿童的临床特点,为进一步治疗提供依据。方法对86例性早熟患儿的临床资料进行回顾性分析,总结其临床特点及辅助检查结果。结果 86例性早熟患儿中,女童有82例,男童4例;17例为真性性早熟,19例为假性性早熟,50例为部分性性早熟;82例女童患者均有乳房发育,TannerⅡ~Ⅳ期,5例出现腋毛4例,6例有月经来潮,伴阴道分泌物增多;4例男童可见阴茎增大,其中3例睾丸增大,属于TannerⅢ期;17例真性性早熟患儿促性腺激素释放激素(GnRH)激发试验呈阳性,骨龄比生理年龄升高1~3年,假性性早熟及部分性性早熟患儿GnRH激发试验呈阴性,骨龄与生理年龄基本相符;患儿性早熟与环境及饮食等因素密切相关。结论儿童性早熟发病率较高,与环境及饮食均有很大的关系,值得医务工作者及家长的重视。     

短暂性真性性早熟

真性性早熟常呈进行性,但也可以是短暂性的。为避免不必要的使用促性腺激素释放激素(Gn-RH)类药物,认识短暂性真性性早熟非常重要。病例报告作者报道了未经治疗而自行性征退化的5例性早熟久孩。年龄2～5.6岁。病人均达到性早熟诊断标准而未就诊。所有病人在首次检查时发现乳房中度肿大,无阴毛,骨龄增加,身高至少在第     

骨龄和遗传身高对重组人生长激素治疗生长激素缺乏症患儿疗效的影响

目的 观察重组人生长激素(rhGH)治疗原发性生长激素缺乏症(GHD)患儿的疗效,分析开始治疗时骨龄和遗传身高(FPH)对GHD治疗效果的影响.方法 对GHD患者应用国产rhGH治疗,选取其中36例完全性GHD男性青春期前患者,按骨龄不同将36例患者分成骨龄<9岁组(19例)和骨龄≥9岁组(17例);按FPH不同将36例患者分成FPH<170.79 cm组(13例),170.79 cm≤FPH<174.69 cm组(14例)和FPH≥174.69组(9例),分别进行治疗后0.5 a平均生长速率(GV)监测.结果 治疗时骨龄<9岁组GV值为(12.9±1.8)cm/a,明显大于骨龄≥9岁组[(9.2±2.1)cm/a](t=2.31 P<0.05);FPH≥174.69组GV值为(12.4±2.1)cm/a,明显大于FPH<170.79组[(10.1±2.0)cm/a](t=2.26 P<0.05).结论 开始治疗时骨龄和遗传身高对GHD患儿的促生长疗效存在显著影响.     

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目的探讨性早熟对2~10岁女童骨密度的影响。方法选择2003-01—2006-01在湖南省儿童医院内分泌专科就诊的2~10岁性早熟(明确诊断、并排除影响骨代谢性疾病)女童237例,根据真、假性性早熟(CPP、PPP)分为2组,各组再按年龄组分层,采用单光子骨矿物质密度测定仪测量左手桡骨中远1/3处桡、尺骨密度(BMD),并与同龄健康女童进行对比和分析。结果CPP、PPP和健康组BMD均随年龄增长而增加,3组各年龄桡骨BMD均高于尺骨;CPP桡、尺骨BMD均相对较高,8~10岁组中CPP较对照组约高6.4%~8.6%;3组桡、尺骨BMD均在8~10岁增长加速,特别是尺骨(P<0.05),分别较6~7岁组增长20.4%、17.8%和14.3%;以CPP组增幅最大,明显高于健康组,与健康组(6~7岁)增长比较差异有显著性(桡骨P<0.05、尺骨P<0.001)。PPP组则与健康女童差异不显著。结论健康女童骨矿化自9岁起开始青春期加速,CPP女童青春期尺骨生长加速的年龄提早,BMD相应增加,而PPP不像CPP那样明显影响女童的正常骨骼发育。     

外周性性早熟患儿的病因及预后随访

目的：探讨外周性性早熟的病因及预后。方法：应用简化的促性腺激素释放激素（GnRH）激发试验测定卵泡刺激素（FSH）及黄体生成素（LH）、雌二醇（E2）水平,并采用B超检查及骨龄检测等方法对125例外周性性早熟患儿进行病因诊断。随访病例102例,随访时间3个月至7.5年。结果：125例患儿的病因分布为：摄入外源性性激素80例,卵巢囊肿11例,McCune Albright 综合征11例,先天性肾上腺皮质增生症（CAH）5例,卵巢畸胎瘤、男性化肾上腺肿瘤、女性化肾上腺肿瘤、垂体柄肿瘤各1例,另有14例患儿病因尚不能确定。预后：摄入外源性性激素者随访72例,均在1～6个月性征消退;11例卵巢囊肿患儿中,8例1~4个月性征自行消退,但其中1例2年3个月后转为中枢性性早熟;1例囊肿切除术后性征消退;卵巢畸胎瘤者术后性征消退;McCune Albright 综合征及CAH者治疗后临床症状减轻,7例转为中枢性性早熟;2例肾上腺肿瘤术后性征消退;1例垂体柄肿瘤术后1年死亡。结论：外周性性早熟病因多样,详细的病史、体检、辅助检查有助于早期明确诊断,不同病因预后不同。     

Precocious puberty in girls: early diagnosis of a slowly progressing variant.

An attempt was made to identify the less severe cases of precocious puberty and to describe their natural course. A group of 17 girls with precocious puberty and a bone age advance over chronological age of less than two years (group 1) was compared with a group of 19 patients with severe precocious puberty and bone age advance of two years or more (group 2). Mean (SEM) plasma oestradiol concentrations were 82 (30) pmol/l and 164 (21) pmol/l (p less than 0.05), vaginal maturation indexes were 16 (5) and 41 (4), and plasma somatomedin C concentrations were 1.0 (0.2) U/ml (n = 8) and 2.1 (0.3) U/ml (n = 16) in groups 1 and 2, respectively. The time between onset and diagnosis of secondary sexual characteristics was about one year in both groups. After two years'' follow up the untreated patients in group 1 had maintained their predicted final height. These changes were in contrast to those observed at first examination in patients in group 2 who had a mean (SD) predicted final height of -1.3 (0.2) and a mean bone age advance of 3.0 (0.2) years. These data show that bone age advance to chronological age, and plasma somatomedin C concentrations measured at initial evaluation are helpful in identifying less severe and potentially slow progressing forms of central precocious puberty.     

Do all girls with apparent idiopathic precocious puberty require gonadotropin-releasing hormone agonist treatment?

OBJECTIVE: To evaluate prospectively pubertal and predicted adult height progression until final height (FH) or near FH in girls with apparent idiopathic precocious puberty who were not treated. STUDY DESIGN: The decision not to treat at the time of initial evaluation was based on evidence of slowly progressive puberty as shown by bone age (BA) advancement <2 years above the chronologic age, whatever the hypothalamic pituitary ovarian axis activation, or no evidence of hypothalamic pituitary ovarian axis activation, whatever the BA advancement. During follow-up, patients who showed a significant decrease in predicted FH were treated with gonadotropin-releasing hormone agonist. RESULTS: Twenty-six girls with idiopathic precocious puberty were studied at a mean chronologic age of 7.4 +/- 0.9 years during a follow-up period of 6.6 +/- 2.2 years until FH or near FH. During the first 2 years of follow-up, most of the patients (group 1, n = 17; 65% of the cases) showed no substantial changes in predicted FH. They never required treatment, and menarche occurred at a mean chronologic age of 11.9 +/- 0.6 years. Their mean FH (or near FH) at 160.7 +/- 5.7 cm was close to their target height (161.3 +/- 4.7 cm). On the other hand, after a mean follow-up period of 1.4 +/- 0.8 years, 9 patients (group 2) had acceleration of bone maturation and deterioration of their predicted FH (from 162.1 +/- 6. 2 cm to 155.3 +/- 5.6 cm; P <.01), which was at that time significantly lower than their target height (P <.05) (mean target height = 159.8 +/- 4.6 cm). They received a gonadotropin-releasing hormone agonist for 2.1 +/- 0.7 years, resulting in a restoration of growth prognosis (mean FH or near FH = 160.2 +/- 6.7 cm). CONCLUSIONS: This study demonstrates that not all patients with apparent idiopathic precocious puberty require medical treatment, notably when there is no evidence of hypothalamo-pituitary ovarian activation or no significantly advanced BA to impair height potential. Most show a slowly progressing puberty. However, careful follow-up of these patients is necessary up to at least 9 years of age, because until then height prediction may deteriorate, necessitating gonadotropin-releasing hormone agonist treatment in one third of the cases.     

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??Objective??To describe height velocity in pre-pubertal Growth Hormone Deficiency??GHD?? children without recombinant human growth hormone??rhGH?? treatment and explore the height velocity targets for the first year in response to rhGH treatment. Methods??Analyze retrospectively the height velocity data without??HV0?? and one year after ??HV1?? rhGH treatment in physiologic dose??0.7 U/??kg·w???? in pre-pubertal GHD children above 3 years old who were diagnosed from Jan??2000 to Dec??2009 in our hospital. The GHD patients who were included for calculation of HV0 had peak GH value in GH provocative test less than 7 ng/ml. HV0 was calculated according to age??HV0-CA??342 patients?? and bone age??HV0-BA??257 patients?? respectively. According to the peak GH value in GH provocative test??the patients who were included for calculation of HV1 were divided into GHD-1 group????0.33 nmol/L??140 patients?? and GHD-2 group??7.0??9.9 μg/L??33 patients??. Results??Within every bone age group??GHD-1 group had significantly higher HV1 than GHD-2 group??P??0.05????11.0??10.5-11.5?? cm/a??n??34?? vs. 9.9??9.1-10.8?? cm/a??n??6?? when bone age was less than 3 years??10.4??9.8-10.9?? cm/a??n??48?? vs. 8.8??8.3??9.2?? cm/a??n??8?? when bone age was between 3 to 5 years??and 9.5??9.1-9.9?? cm/a??n??58?? vs. 8.5??8.0-9.1?? cm/a??n??19?? when bone age was between 6 to 10 years. The mean HV1 of GHD-2 was very close to the 25th percentile??P25?? of GHD-1 group. They both were significantly higher than HV0-BA. Conclusion??The recommended height velocity target for the first year after rhGH treatment in pre-
pubertal GHD children is the P25 of HV1 of GHD-1 group. It should be at least 9.9 cm/a??8.7 cm/a and 8.3 cm/a when the bone age is less than 3 years??3 to 5 years and 6 to 10 years?? respectively.     

快进展型青春期威廉姆斯综合征女童1例GnRHa治疗分析

目的 探讨威廉姆斯综合征(WBS)患儿性早熟的治疗.方法 回顾分析1例快进展型青春期WBS女童的临床资料,并复习相关文献.结果 女性患儿,9岁5个月,因乳腺发育1年余、月经来潮3次就诊.根据患儿特殊面容、主动脉瓣上狭窄、智能发育落后、性早熟及医学外显子测序,WBS诊断明确.患儿骨龄提前2岁,子宫长径37 mm,内膜5 ...     

GnRHa治疗中枢性性早熟女童对终身高的影响

目的：观察促性腺激素释放激素类似物（GnRHa）对治疗中枢性性早熟（central precocious puberty,CPP）女童终身高的作用及相关因素。方法：对26例CPP女童应用GnRHa治疗前后预测身高、骨龄的标准差分值［HtSDS(BA)］、终身高、体重指数（BMI）、初潮情况等进行评价,分析它们与终身高的相关性。结果：治疗前预测身高为151.5±5.7 cm;停药时预测身高为158.4±5.2 cm;终身高为158.0±4.0 cm,高于靶身高155.3±4.4 cm (P<0.01)。终身高与初始身高、预测身高、HtSDS(BA)正相关。治疗前BMI为17.1±2.1、治疗后BMI为19.9±3.2,两者呈正相关。停药后平均13.2±6.1个月后初潮,平均初潮年龄为12.2±0.7岁。结论：GnRHa治疗CPP可有效地改善终身高,终身高与治疗前身高及预测身高等密切相关,停药后患儿青春发育与正常儿童相似。［中国当代儿科杂志,2009,11（5）：374-376］     

45,X Turner综合征合并中枢性性早熟1例报告并文献复习

目的总结Turner综合征(TS)合并中枢性性早熟的诊断和治疗经验,提高对该病的认识。方法报道1例45,X TS合并中枢性性早熟诊断、治疗和随访病例,对相关文献进行复习。结果患儿,女,7.5岁,因"乳房增大半年"就诊。身高117.9 cm(P_(7.2)),体重32.5 kg,肥胖外观,无高腭弓、颈蹼、盾形胸和肘外翻,乳房Tanner分期Ⅱ期,心肺查体未见异常,外阴阴毛Tanner分期Ⅰ期。辅助检查:促性腺激素释放激素(LHRH)激发试验峰值:黄体生成素(LH)11.9 U·L~(-1),卵泡刺激素(FSH)34.2 U·L~(-1),雌二醇(E2)39.3 ng·L~(-1)。盆腔超声示卵巢增大。骨龄9.7岁。应用促性腺激素释放激素类似物(GnRHa)治疗2.7年后,身高131.4 cm,骨龄12岁,联合重组人生长激素(rh GH)继续治疗2.3年,身高148.4 cm,骨龄13岁。停药1年半后身高154.2 cm,接近遗传靶身高,检测LH 11.9 U·L~(-1),FSH 50.5 U·L~(-1),E2 38.9ng·L~(-1),染色体:45,X。系统文献检索国外仅有6例TS合并中枢性性早熟的病例报告,其中5例染色体为嵌合体,1例为1条X染色体的片段缺失。结论单体型TS可出现中枢性性早熟,GnRHa联合rh GH治疗能够改善患儿成年终身高。     

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??Objective To identify variables that might interfere with near final height??NFH?? of patients with congenital adrenal hyperplasia??CAH?? due to classic 21-hydroxylase deficiency??21-OHD??. Methods Eight-two patients with CAH due to classic 21-OHD achieved the NFH were followed up from March 1989 to May 2015 in Child Growth Center of the First Affiliated Hospital of SUN Yat-sen University. The NFH were compared with the standard height for the population and the target height??TH????and associated factors were analyzed. Results Eighty-two patients were followed up for approximately 10.6 yrs??0.5 to 25.5 yrs??. NFH SDS??-1.9±1.1?? was significantly lower than the normal population??P??0.001??. The treated group was significantly taller than the untreated group??P??0.01????early diagnosis group appeared to be taller than those with late diagnosis??P??0.019??. A better height outcome was observed in patients with advantage in TH??good compliance??and low HC dose by multivariate Cox regression analysis in 62 treatment patients. NFH and HC dose were negatively correlated??r??-0.23??P??0.078?? in treated group. For uncontrolled patients??patients with original HC does+letrozole had a better improvement than those receiving HC enhanced dose??P??0.064??. NFH SDS of patients with central precocious puberty who received GnRHa+letrozole was significantly higher than no-intervention group??P??0.005??. Conclusion Whether receiving treatment or not NFH of the classic 21-OHD children is below expectation??as compared with both the reference population and the target height??and is even lower in non-treatment group. Early diagnosis??early treatment??good compliance and lower dose of HC have a major impact on 21-OHD NFH. Associated adjuvant therapy of inhibiting bone maturation can somewhat improve NFH.     

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目的分析中枢性性早熟(CPP)女童糖脂代谢的特点及脂联素在性早熟女童糖、脂代谢中的作用。方法浙江大学医学院附属儿童医院于2004年6~10月收治50例CPP女童,测量空腹血糖、胰岛素、甘油三酯、胆固醇、脂联素,并做葡萄糖耐量试验和胰岛素释放试验,采用总体胰岛素敏感指数(WBISI)、胰岛素抵抗指数(HOMA-IR)这2个指标来评估胰岛素敏感性和胰岛β细胞功能。并与年龄匹配的正常对照组进行比较。结果(1)CPP女童空腹胰岛素、HOMA-IR明显高于正常对照组(P<0·01)。(2)CPP女童A1组胆固醇较正常对照组明显升高(P<0·05)。(3)CPP女童体重指数(BMI)值均较正常对照组明显升高(P<0·05)。其中超重16%(8/50),肥胖8%(4/50)。(4)CPP女童脂联素均较正常对照组明显下降(P<0·01)。(5)CPP女童BMI值与WBISI显著负相关(r=-0·31,P<0·05),与HOMA-IR显著正相关(r=0·30,P<0·05),与脂联素显著负相关(r=-0·43,P<0·01)。CPP女童脂联素与WBISI显著正相关(r=0·29,P<0·05),多元回归分析显示CPP女童脂联素与WBISI、HOMA-IR无显著相关性。(6)排除12例超重加肥胖CPP女童后再分析显示A1、A2组女童空腹胰岛素、HOMA-IR仍明显高于正常对照组(P<0·01),而脂联素水平3组差异无显著性。结论(1)CPP女童存在不同程度的胰岛素抵抗,尤见于BMI值明显升高的性早熟女童。(2)肥胖或超重的性早熟女童胰岛素抵抗可能与脂联素水平下降有关。