促性腺激素释放激素类似物治疗下丘脑错构瘤导致性早熟5例临床分析

Clinical analysis of 5 cases with precocious puberty caused by hypothalamic hamartomas treated with gonadotropin releasing hormone analogues

目的 探讨儿童下丘脑错构瘤导致性早熟的临床特点和诊疗方案。方法 回顾性分析2017年5月至2021年5月广州医科大学附属妇女儿童医疗中心诊治的下丘脑错构瘤导致性早熟患儿5例。在万方数据库及PubMed数据库中检索相关文献,总结下丘脑错构瘤导致性早熟的诊治特点。结果 5例患儿初诊年龄为6月~8岁。均以性早熟为突出表现。使用促性腺激素释放激素类似物(醋酸亮丙瑞林注射液或醋酸曲普瑞林注射液)治疗。性发育均获得明显控制。5例患儿性激素水平均明显下降,骨龄均获得明显的控制。病例1月经消失,乳腺从B2期减小到B1期。病例2和病例5阴茎和睾丸没有进一步增大。病例3和病例4乳腺从B3期减小到B2期。结论 部分下丘脑错构瘤患儿主要临床表现为性早熟。若未合并癫痫等神经系统表现,可首先使用促性腺激素释放激素类似物治疗,效果良好,性早熟可得到明显控制,避免手术。

Objective To investigate the clinical characteristics,diagnosis and treatment of precocious puberty caused by hypothalamic hamartomas in children.Methods Five cases of precocious puberty caused by hypothalamic hamartomas diagnosed and treated by Guangzhou Women and Children's Medical Center from May 2017 to May 2021 were analyzed retrospectively.Relevant literatures were searched in Wanfang and PubMed databases to summarize the diagnosis and treatment characteristics of precocious puberty caused by hypothalamic hamartomas.Results Five children with hypothalamic hamartomas were initially diagnosed from 6 months to 8 years old.Precocious puberty was the prominent performance.They were treated with gonadotropin releasing hormone analogues(GnRHa)(Enantone injection or Diphereline injection),achieving a significant outcome of controlled sexual development,including significantly decreased sex hormone levels and controlled bone age.The menstruation of Case 1 disappeared,and the breast development of stage B2 was recovered to stage B1.The penis and testicles of Case 2 and Case 5 did not further enlarge.The breast development of Case 3 and Case 4 was recovered from stage B3 to stage B2.Conclusion Precocious puberty is the main manifestation of hypothalamic hamartomas.GnRHa can be initially applied to those without neurological manifestations like epilepsy.They have an acceptable efficacy on controlling precocious puberty,so as to avoid a surgical treatment.