十一酸睾酮对雄激素不敏感综合征患儿的治疗效果  

Efficacy of oral testosterone undecanoate in children with androgen insensitivity syndrome

作　　者：刘莹[1] 李乐乐 袁峥 王馨萌 王晓玲[1] 范丽君 巩纯秀[2] Liu Ying;Li Lele;Yuan Zheng;Wang Xinmeng;Wang Xiaoling;Fan Lijun;Gong Chunxiu(Department of Pharmacy,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China;Department of Endocrinology,Genetics,Metabolism,Bejing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China)

机构地区：[1]首都医科大学附属北京儿童医院药学部,北京100045 [2]首都医科大学附属北京儿童医院内分泌与遗传代谢中心,北京100045

出　　处：《中华儿科杂志》2024年第8期758-763,共6页Chinese Journal of Pediatrics

基　　金：重大新药创制科技重大专项(2017ZX09304029-001-002);首都临床诊疗技术研究及转化应用(Z201100005520061)。

摘　　要：目的探讨雄激素不敏感综合征(AIS)患儿口服十一酸睾酮治疗的效果及安全性。方法采用自身前后对照研究设计。选取2009至2021年在北京儿童医院内分泌遗传代谢门诊基因确诊的51例AIS患儿为研究对象。采用口服十一酸睾酮治疗。主要观察指标为阴茎长度达到最低手术标准(≥2.5cm)或停药标准(≥-2.5s)。次要观察指标为阴茎长度标准差积分(PL-SDS)、阴茎长度增长(△PL)、用药剂量、疗程、安全性指标等。共4个疗程,每个疗程结束后评估患儿是否可以停药,阴茎长度增长欠佳患儿继续服药。采用配对样本t检验、Wilcoxon秩和检验进行比较,分析疗效和安全性。疗程结束后对患儿继续随访至2023年。结果51例AIS患儿中男33例、女18例(户口性别),其中10例诊断完全型AIS(CAIS),41例诊断部分型AIS(PAIS)。CAIS患儿阴茎长度治疗前后均“无法测量”(阴茎长度<0.5cm)。PAIS基线阴茎长度和PL-SDS分别为(2.3±0.6)cm和-3.7±1.3。4个疗程结束后阴茎长度和PL-SDS分别达到(2.7±0.8)、(2.8±0.6)、(2.6±0.4)、(2.6±0.4)cm和-2.8±1.6、-2.5±1.6、-2.9±1.2、-3.2±0.9,与基线相比,差异均有统计学意义(t=4.05、3.56、2.55、2.23和3.88、3.50、2.50、2.19,均P<0.05)。PAIS患儿治疗前13例(32%)符合最低手术标准;7例(17%)符合停药标准。4个疗程后累计18例(44%)、24例(59%)、25例(61%)、26例(63%)达最低手术标准;累计12例(29%)、15例(37%)、20例(49%)、21例(51%)达到停药标准。患儿随访最大年龄至13.7岁。患儿治疗前后体重、身高、体质指数、骨龄/年龄、胆固醇和血红蛋白等均在正常范围且差异均无统计学意义(均P>0.05)。2例CAIS患儿医生确诊并处方十一酸睾酮后,患儿并未真正服药。49例患儿口服十一酸睾酮患儿血电解质、肝肾功能和甲状腺功能等均未见异常,且无性早熟、阴毛增长、攻击行为、外阴皮肤发黑、腹泻等改变。结论CAIS患儿口服十一Objective:To investigate the efficacy and safety of oral testosterone therapy in individuals diagnosed with androgen insensitivity syndrome(AIS).Methods:A self-controlled study design was utilized,focusing on individuals with AIS who were genetically diagnosed at the Department of Endocrinology,Genetics,and Metabolism of Beijing Children′s Hospital between 2009 and 2021.These patients underwent treatment involving the administration of testosterone.The primary observed indexes include the measurement of penis length,which should meet the minimal surgical standard(penis length≥2.5 cm)or greater than or equal to-2.5 s(lower limit of normal).Secondary observed indexes include penile length standard deviation score(PL-SDS),an increase in penis longitude(ΔPL),medication dosage,the course of therapy,and safety indicators,among others.There were 4 courses of treatment.After each course,patients were evaluated to determine whether termination of treatment was appropriate.Patients who exhibited inadequate post-treatment penile length growth were advised to continue with further treatment.The statistical methodology included t-test,and a Wilcoxon rank sum test to describe efficacy and safety.The patients were followed up until 2023.Results:The study comprised a total of 51 individuals with AIS,comprising 33 males and 18 females(gender of registered permanent residence).Among these patients,10 were diagnosed with complete androgen insensitivity syndrome(CAIS)and 41 were diagnosed with partial androgen insensitive syndrome(PAIS).There were 2 children with CAIS were diagnosed by doctors and prescribed testosterone undecanoate,but the children did not really take medicine.The penile length of CAIS patients could not be measured(penile length<0.5 cm)before and after treatment.For PAIS patients,baseline penile length and PL-SDS were(2.3±0.6)cm and-3.7±1.3,respectively.The measurements for penile length and PL-SDS after each treatment course were recorded as follows:(2.7±0.8),(2.8±0.6),(2.6±0.4),(2.6±0.4)cm and-2.8±1.

关 键 词：阴茎 睾酮 药物疗法 雄激素不敏感综合征 

分 类 号：R725.9[医药卫生—儿科]