Intracranial choriocarcinoma causing precocious puberty and cured with combined modality therapy

Abstract: Precocious puberty can be caused by hormonally active tumours, which may arise intracranially. Treatment of these intracranial lesions traditionally involves biopsy and radiotherapy. Chemotherapy has been used recently, although radiotherapy has been given irrespective of the response to chemotherapy. We report a case of precocious puberty in an 8 year old boy due to a malignant intracranial germ cell tumour. Although one could speculate that he was cured by such combined modality therapy, the patient was left with several long-term problems. Radiotherapy was a major cause of these complications. Radiotherapy is now thought unnecessary for most extracranial germ cell tumours, as chemotherapy alone is curative in most patients. Therefore it seems appropriate to consider the elimination of radiotherapy for patients with intracranial disease.     

性早熟伴肿瘤24例临床分析

目的探讨性早熟伴肿瘤患儿的临床特征。方法对住院的24例性早熟伴肿瘤患儿的临床资料进行统计分析。结果男女伴肿瘤性早熟占同性别性早熟的比例分别为12.93%及0.50%;以周围性性早熟（PPP）为表现的肿瘤患儿术后转变为中枢性性早熟（CPP）后其骨龄（BA）显著提前,黄体生成素（LH）、卵泡刺激素（FSH）基础值及GnRH激发试验峰值均明显升高。结论性早熟患儿中男性性早熟伴肿瘤的发生率高于女性,以周围性性早熟为表现的肿瘤患儿术后可转变为中枢性性早熟。     

Long-term survival of a patient with primary sellar choriocarcinoma with pulmonary metastases: A case report

Extracranial metastasis is an unusual complication of most types of primary intracranial tumor. Approximately one-third of reported cases of primary intracranial choriocarcinoma have been associated with pulmonary tumor metastasis. The prognosis of such patients has been uniformly fatal. This report describes a probable long-term survivor of primary intracranial choriocarcinoma with pulmonary metastasis. The patient had a complete response to combination chemotherapy with cisplatin, etoposide, and bleomycin and is surviving free of disease >3 years from diagnosis. © 1996 Wiley-Liss, Inc.     

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。     

双酚A与女童性早熟的关系

目的探讨双酚A(BPA)与女童性早熟的关系。方法选择2012年8月至12月就诊的103例6~8岁性早熟女童,根据性早熟分类标准分为特发性中枢性性早熟(ICPP)组(n=47)及单纯乳房发育(PT)组(n=56),选取同期同年龄乳房未发育女童53例为正常对照组。高效液相色谱串联质谱法(HPLC-MS-MS)测定血清BPA,酶联免疫法测定血清Kisspeptin,化学发光法测定血清性激素,比较和分析三组间的差异。结果 ICPP组和PT组的血清BPA检出率高于对照组,ICPP组血清BPA水平高于PT组及对照组,差异有统计学意义(P均0.05);ICPP组血清Kisspeptin水平也高于PT组及对照组,差异有统计学意义(P均0.05);ICPP组血清黄体生成素(LH)峰值及LH/卵泡刺激素(FSH)比值高于PT组,ICPP组及PT组血清雌二醇(E2)水平高于对照组,差异有统计学意义(P均0.05)。三组的血清BPA水平与E2、LH峰值及LH/FSH比值有相关性(P0.05),与血清Kisspeptin水平及FSH峰值无相关性(P0.05)。结论 BPA与女童ICPP发生有一定的相关性。     

���Զ�ͯͬ��������78�������ٴ�����

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。     

女性真性性早熟药物治疗疗效分析

目的　评价亮丙瑞林、达那唑、酮康唑、醋酸甲羟孕酮治疗女性真性性早熟的疗效。方法　女性性早熟 6 1例分别用酮康唑 4～ 8mg/ (kg·d) ,达那唑 5～ 10mg/ (kg·d) ,亮丙瑞林 30～ 90 μg/kg ,醋酸甲羟孕酮 8～10mg/d治疗。观察治疗前后患儿第二性征、骨龄、血清性激素变化。 结果　亮丙瑞林组治疗后第二性征减退 ,血激发试验峰黄体生成素 (LH)、卵泡刺激素 (FSH)及基础FSH、血清胰岛素样生长因子 1(IGF 1)显著下降 (P均 <0 .0 5 ) ,骨龄增长减慢 ;达那唑组第二性征减退 ,但血指标改变不大 ,个别病例有丙氨酸氨基转移酶 (ALT)改变等副作用 ;酮康唑对第二性征和激素变化均不明显 ;醋酸甲羟孕酮组除乳房略回缩外其他性征及激素无变化 ,且阴道出血率高。结论　亮丙瑞林治疗女性真性性早熟除可使第二性征逆转外 ,还可使激素下降、骨龄生长延缓 ;而达那唑、酮康唑、醋酸甲羟孕酮仅能改变第二性征 ,不能改变其他指标 ,且副作用大 ,故认为亮丙瑞林可作为治疗女性真性性早熟的理想药物     

Sterile abscess formation associated with depot leuprorelin acetate therapy for central precocious puberty

We describe a case of an 8 year old girl with central precocious puberty. She was commenced on 3 monthly intramuscular depot Leuprorelin acetate therapy, as a result of which she developed sterile abscesses. She was converted to daily subcutaneous Leuprorelin acetate therapy with no recurrence of the abscesses. The possible mechanisms for this reaction are described in the article.     

������Ůͯ��֬��л��֬���صĹ�ϵ

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。     

来曲唑治疗特发性中枢性性早熟男童的临床观察

目的 对骨龄大于13岁、身高偏矮小的中枢性性早熟（ICCP）男童应用来曲唑（letrozole）治疗,观察该治疗方案对延缓骨龄老化和改善成年预测身高的效果和不良反应。方法 将骨龄大于13岁的ICCP男童20例随机分为2组,每组10例,一组予来曲唑口服治疗6个月[2.5 mg/（m2·d）,Qd];另一组为对照组,定期观察,不予特殊治疗。观察两组男童骨龄、生长速度、身高标准差积分、预测成年身高标准差积分、性征发育情况及性激素水平的变化。并观察来曲唑治疗相关不良反应。结果 试验开始6个月后,来曲唑组和对照组男童骨龄均显著增加,但来曲唑组男童骨龄增长（13.82±0.23岁）较对照组男童（14.47±0.30岁）明显缓慢（PPP结论 对骨龄超过13岁、身高受损显著的ICCP男童应用来曲唑能够有效减缓骨龄老化,改善预测成年身高,且未见明显不良反应。     

A structured approach to the child with precocious puberty

Precocious puberty is the appearance of physical and hormonal features of puberty before 8 years (girls) or 9 years (boys). Untreated it limits adult height and has potential psychosocial implications. It is a fairly common referral to secondary care clinics and is often seen by general paediatricians in the first instance in the UK. As an outpatient presentation it can cause anxiety owing to the breadth of potential aetiologies and concerns about missing a rare sinister cause. This short article offers a structured approach to precocious puberty to help identify any sinister causes and determine what steps you should take next.     

国内儿童性早熟研究16年主题文献分析

儿童性早熟是一种儿童生长发育异常的疾病,近年来本病的发生率显著增高,已成为最常见的小儿内分泌疾病之一。凡女童在8岁之前出现乳房增大、阴毛、腋毛生长等任何一项或多项第二性征,或月经初潮于10岁以前;男孩在9岁之前出现阴茎、睾丸增大、阴毛生长等性发育表现者即为性早熟。目前,儿童性早熟问题已受到医学界的广泛关注。为做好儿童性早熟流行病学调查的基础工作,笔者对1989年至2005年国内各类医学期刊公开发表的学术论文中有关儿童性早熟的文献资料进行了统计分析,现报告如下。     

女孩中枢性性早熟诊断预测模型的建立和验证

背景 促性腺激素释放激素(GnRH)激发试验是目前诊断中枢性性早熟(CPP)的金标准,但需多次采血.以黄体生成素(LH)基础值诊断CPP在不同研究中的截断值差异较大.目前已报道的CPP诊断预测模型,或操作不便,或诊断效能不满意.目的 建立便于临床操作且诊断效能较高的预测模型辅助诊断女孩CPP.设计收集完成GnRH激发试...     

Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome

In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of chromosome 15q, who developed CPP. On admission, height was 131.1 cm (+0.17 SD), BMI 26.2 kg/m², pubic hair (Ph) 2, and testis 4.5 ml. We found increased growth velocity (7 cm/year), high testosterone levels, pubertal response to GnRH test, and advanced bone age (10.6 years). An evaluation of growth hormone (GH) secretion revealed a deficiency. Pituitary MRI was normal. LHRH analogue therapy (Leuproreline 3.75 mg/28 days i.m.) was started at 8.9 years and discontinued at 11.3 years, when the patient had bone age of 13 years. During therapy, growth velocity, testosterone, FSH, and LH peak decreased significantly, with no pubertal progression. Growth hormone therapy (0.24 mg/kg/week) was started at 9.5 years and discontinued at 15.3 years because the patient had bone age of 17 years. After interrupting LHRH therapy the patient demonstrated spontaneous pubertal progression with pubertal gonadotropin and testosterone. At 16.3 years, height was 170 cm (−0.48 SDS), BMI 36.3 kg/m², Ph 4, testis volume 10 ml and there was a combined hypothalamic and peripheral hypogonadism hormonal pattern (normal LH even with low testosterone and undetectable inhibin B with high FSH). To our knowledge this is the fourth male patient with genetically-confirmed PWS demonstrating CPP and GHD and the first with a long follow-up to young adulthood.     

The effect of cyproterone acetate on the growth of children with central precocious puberty

We have examined the growth and skeletal maturation of 19 children (6 male, 13 female) with central precocious puberty. The aetiology in nine patients (5 male, 4 female) was secondary to a hypothalamic hamartoma. Six children (2 male, 4 female) received no treatment whereas 13 children (4 male, 9 female) were treated with cyproterone acetate in a mean dose of 68 mg/m² per day (range, 34–260) for a mean duration of 4.5 years (range, 0.8–7.9). There was no significant difference between height SDS for bone age at the beginning and end of observation in either treated or untreated groups. No significant relationship between the mean dose of cyproterone acetate used and change in height SDS for bone age could be determined. We conclude that cyproterone acetate has no beneficial effect on the growth prognosis of children with central precocious puberty.Abbreviation GnRH gonadotrophin releasing hormone     

Efficacy of the subcutaneous reformulated triptorelin depot in children with central precocious puberty

The efficacy, safety and acceptance of newly formulated triptorelin s.c. (Decapeptyl^®     

Longitudinal study of behavioral and affective patterns in girls with central precocious puberty during long-acting triptorelin therapy

Abstract The aim of the present study was to evaluate the behavioral and affective characteristics and the changes in psychosocial functioning resulting from precocious puberty in 15 girls with central precocious puberty treated for 2 y using the GnRH agonist long-acting triptorelin, and in 5 untreated girls. After diagnosis of precocious puberty at 6.6–10.4 y of age, height, weight and pubertal development were evaluated at 3-month intervals over 2 y. Semi-structured interviews were carried out with the patient, the parents and the pediatric endocrinologists at 1, 8, 16 and 24 months after diagnosis. Standardized questionnaires (Child Behavior Checklist, Self-esteem Inventory) were administered at 1 and 24 months or 16 and 24 months, respectively. There was a mean 1.5-y delay between the observation of signs of puberty as reported by the parents and the diagnosis of precocious puberty at the first consultation of a pediatric endocrinologist. Before follow-up, all 20 girls were very concerned about physical differences from peers, particularly breast development. During therapy, breast regression to minimal or absent development occurred in 5/15 treated patients, who then no longer felt embarrassed about pubertal development in contrast to the other patients. Fear of sexuality remained obvious throughout the study in most patients. Feelings of loneliness and exemplary behavior were observed and tended to decrease in the treated patients and to increase in the untreated patients. Elevated scores of withdrawal, anxiety/depression and somatic complaints at Child Behavior Checklist were still observed after 2 y. These changes in behavioral and affective characteristics appeared to be related neither to height and weight, nor to development of pubic hair, which progressed in most patients. After 2 y, the physical differences remained a concern for 13 girls and the risk of short adult stature for 6. In summary, some behavioral and affective characteristics and particularities in psychosocial functioning are observed in girls with precocious puberty. During treatment with long acting triptorelin, problematic behavior and functioning decrease slightly, particularly in the few girls showing breast regression to minimal or absent development.     

三种不同类型性早熟女童骨生长及骨代谢变化研究

目的探讨真性特发性性早熟女童三种不同类型胰岛素样生长因子1（IGF1）、骨龄（BA）及骨密度（BD）的变化。方法真性特发性性早熟女童196例,分为快速进展型、缓慢变化型及生长相对迟缓型,分别检测不同类型性早熟女童IGF1、BA及BD,并进行三种类型间比较,观察其骨生长及骨代谢的变化。结果快速进展型性早熟女童其IGF1、BA显著高于缓慢变化型及生长相对迟缓型女童（P〈0．05）;缓慢变化型女童IGF1及BA高于生长相对迟缓型患儿（P〈0．05）,生长相对迟缓型患儿其IGF1明显降低,甚至低于同年龄女童正常值,BA与实际年龄相当,BD在三种类型患儿间差异无统计学意义。结论快速进展型女童存在明显的骨生长加速、成熟提前,生长潜力缩短;缓慢变化型女童尽管也存在骨生长、成熟加速,但生长速度、骨成熟进程相对较缓;生长相对迟缓型女童骨生长迟滞,呈现出性腺轴与生长轴分离现象。