45,X Turner综合征合并中枢性性早熟1例报告并文献复习  

A case of central precocious puberty in 45,X Turner syndrome and literature review

作　　者：张莹[1] 陈瑞敏[1] 杨晓红[1] 林祥泉[1] 

机构地区：[1]福建省福州儿童医院内分泌科,福建医科大学教学医院,福州350005

出　　处：《中国循证儿科杂志》2016年第1期38-41,共4页Chinese Journal of Evidence Based Pediatrics

基　　金：福州市卫生计生系统创新团队培育项目:2015-S-wt6

摘　　要：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。Objective To improve the recognition and treatment level of central precocious puberty in Turner syndrome（ TS）.Methods A case of central precocious puberty in 45,X TS was reported,and the related literatures were reviewed. Results 1A 7.5-year-old girl was referred with complaints of breast budding. Her height was 117. 9 cm and weight was 32. 5 kg,a physical examination revealed a Tanner stage Ⅱ for breast development and Tanner stage Ⅰ for pubic hair development,She showed no signs of Turner syndrome,such as webbed neck,cubitus valgus,high arched palate,and shield chest deformity. Lab examination：gonadotropin-releasing hormone stimulation test peak： luteinizing hormone was 11. 9 U · L（-1）,follicule stimulating hormone was34. 2 U·L（-1）,estradiol was 39. 3 ng·L（-1）,pelvis ultrasound showed enlarged ovaries,her bone age was 9. 7 years. The patient was treated with gonadotropin releasing hormone analog for 2. 7 years,her height was 131. 4 cm and bone age was 12 years.Further,she has been given gonadotropin releasing hormone analog and recombinant human growth hormone for 2. 3 years,her height was 148. 4 cm and bone age was 13 years. After discontinuing drugs for 1. 5 years,her height was 154. 2 cm closed to genetic height. Lab examination showed luteinizing hormone was 11. 9 U·L（-1）,follicule stimulating hormone was 50. 5 U·L（-1）,estradiol was 38. 9 ng·L（-1）,Chromosome analysis showed a karyotype of 45,X. 2A total of six patients associated with central precocious puberty in TS has been reported so far. Five of them were mosaic TS and other one was 46,X,del（ X）（ p11. 2）.Conclusion Central precocious puberty can occur in X-monosomy TS,the treatment of gonadotropin releasing hormone analog combined with recombinant human growth hormone can improve patient＇s final height.

关 键 词：TURNER综合征 中枢性性早熟 单体型 

分 类 号：R725.8[医药卫生—儿科]