中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (9): 784-787.DOI: 10.19538/j.ek2025090615

• 病例报告 • 上一篇    下一篇

1 例家族性男性性早熟患儿联合用药治疗9年疗效和安全性分析

  

  1. 1.华中科技大学同济医学院，湖北  武汉  430030；2.华中科技大学同济医学院附属武汉儿童医院遗传代谢内分泌科，湖北  武汉  430016
  • 出版日期:2025-09-06 发布日期:2025-10-21
  • 通讯作者: 姚辉，电子信箱：yaohui1024@sina.com
  • 基金资助:
    武汉市2022年度知识创新专项曙光计划（2022020801020570）

Efficacy and safety analysis of 9-year combined drug therapy for a case of familial male-limited precocious puberty

  1. *Tongji Medical College，Huazhong University of Science and Technology，Wuhan  430030，China；Department of Genetic Metabolism and Endocrinology，Wuhan Children's Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan  430016，China
  • Online:2025-09-06 Published:2025-10-21

摘要： 家族性男性性早熟（FMPP）的长期疗效目前国内鲜有报道。文章报告了1例LHCGR基因激活突变导致的FMPP患儿的临床特征、基因检测结果及随访9年的治疗效果及安全性。患儿男，1岁6月龄开始出现阴茎增大伴生长加速，结合其睾酮水平、促性腺释放激素（LHRH）激发试验及骨龄等辅助检查结果，初步诊断为外周性性早熟，基因检测示患儿及其母LHCGR基因第11个外显子存在错义突变，导致532位氨基酸由亮氨酸突变为精氨酸（p.L532A，可疑新发突变位点），最终诊断FMPP。联合应用来曲唑、甲羟孕酮、醋酸曲普瑞林治疗9年余，患儿达到满意终身高且未发生明显不良反应。文章为FMPP的诊疗积累了经验，并拓展了LHCGR基因突变谱。

关键词: 家族性男性性早熟, LHCGR 基因, 疗效, 安全性

Abstract: Currently，there are few reports on the long-term efficacy in familial male-limited precocious puberty（FMPP） in China. This article reports the clinical characteristics，genetic testing result，and the treatment effects and safety during a 9-year follow-up of a child with FMPP caused by an activating mutation of the LHCGR gene. The male patient presented with penis enlargement and accelerated growth at one year and six months old. Based on his serum testosterone level，LHRH stimulation test result，bone age and other auxiliary examinations，he was initially diagnosed with peripheral precocious puberty. Genetic detection revealed a missense mutation of the LHCGR gene exon11 in the patient and his mother，resulting in the mutation of amino acid 532 from leucine to arginine（p.L532A，a suspected new mutation site），and the boy was finally diagnosed with FMPP. After combined treatment with letrozole，medroxyprogesterone，and triptorelin acetate for more than 9 years，the child achieved a satisfactory final height without any obvious adverse reactions. This study accumulates experience in the diagnosis and treatment of FMPP and expands the mutation spectrum of the LHCGR gene.

Key words: familial male-limited precocious puberty, LHCGR gene, efficacy, safety